New York Approved
Pediatric Genetics

Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.

The tests and genes on this page are organized into clinical areas. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

Invitae is a New York state approved clinical laboratory. The tests and genes on this page are approved or under conditional approval by New York State to be performed at Invitae and do not require a New York exemption form.

Clinical Area: Pediatric and Rare Disease

102 genes

Invitae Ciliopathies Panel

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Genetic testing for 102 genes associated with ciliopathy syndromes, a class of disorders that share many symptoms, including renal disease, eye defects, intellectual disability, diabetes, obesity, situs inversus, polydactyly, and a variety of skeletal dysplasias.

GENES TESTED:

AHI1 ANKS6 ARL13B ARL6 ARMC4 B9D1 B9D2 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 C21orf59 C5orf42 CC2D2A CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CCDC65 CCNO CEP104 CEP120 CEP164 CEP290 CEP41 CEP83 CSPP1 DCDC2 DNAAF1 DNAAF2 DNAAF3 DNAAF5 DNAH1 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2 DNAL1 DRC1 DYNC2H1 DYX1C1 EVC EVC2 GAS8 GLIS2 IFT122 IFT140 IFT172 IFT80 INPP5E INVS IQCB1 KIAA0586 KIF7 LRRC6 MCIDAS MKKS MKS1 MRE11 NEK1 NEK8 NME8 NPHP1 NPHP3 NPHP4 OFD1 PDE6D PKD2 PKHD1 RPGR RPGRIP1L RSPH1 RSPH3 RSPH4A RSPH9 SDCCAG8 SPAG1 TCTN1 TCTN2 TCTN3 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TRIM32 TTC21B TTC8 WDPCP WDR19 WDR34 WDR35 WDR60 XPNPEP3 ZMYND10 ZNF423

up to 18 genes

Invitae Skeletal Ciliopathies Panel

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Genetic testing for up to 18 genes that are associated with skeletal ciliopathies including short-rib thoracic dystrophy (SRTD), asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld syndrome (EVC), Weyers acrofacial dysostosis (WAD), Mainzer-Saldino syndrome (MZSDS), oral-facial digital syndrome type IV (OFD IV) and cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome.

GENES TESTED:

Primary Panel:
CEP120 CSPP1 DYNC2H1 EVC EVC2 IFT122 IFT140 IFT172 IFT80 KIAA0586 NEK1 TCTN3 TTC21B WDR19 WDR34 WDR35 WDR60

Add-on FGFR3-related Thanatophoric Dysplasia Gene:
FGFR3

Individuals with FGFR3-related thanatophoric dysplasia may share clinical features with the skeletal ciliopathies. Given the significant overlap and the difficulty in differentiating between these disorders, analyzing the FGFR3 gene may be appropriate. This gene may be included at no additional charge.

up to 36 genes

Invitae Primary Ciliary Dyskinesia Panel

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Genetic testing for up to 36 genes associated with primary ciliary dyskinesia (PCD), a condition characterized by neonatal respiratory distress, chronic cough, recurrent pneumonia, persistent sinusitis and otitis media, and laterality defects.

GENES TESTED:

Primary Panel:
ARMC4 C21orf59 CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CCDC65 CCNO DNAAF1 DNAAF2 DNAAF3 DNAAF5 DNAH1 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2 DNAL1 DRC1 DYX1C1 GAS8 LRRC6 MCIDAS NME8 OFD1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 ZMYND10

Add-on Preliminary-evidence Gene for Primary Ciliary Dyskinesia:
INVS

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on Cystic Fibrosis Gene:
CFTR

Many of the clinical features of PCD overlap with those of cystic fibrosis, including persistent sinusitis, chronic pneumonia, and bronchiectasis. If CFTR sequencing has not previously been performed, adding the CFTR test to this analysis may be appropriate. It is recommended that patients with probable PCD should be screened for pathogenic CFTR variants to rule out the possibility of cystic fibrosis. This gene can be included at no additional charge.

16 genes

Invitae Bardet-Biedl Syndrome Panel

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Genetic testing for 16 genes associated with Bardet-Biedl syndrome (BBS), a condition characterized by truncal obesity, cognitive impairment, rod-cone dystrophy and renal abnormalities.

GENES TESTED:

ARL6 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CEP290 MKKS MKS1 SDCCAG8 TRIM32 TTC8 WDPCP

30 genes

Invitae Joubert and Meckel-Gruber Syndromes Panel

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Genetic testing for 30 genes associated with Joubert syndrome and related disorders (JSRD) and Meckel-Gruber syndrome (MKS). These syndromes are characterized by congenital brain malformations, renal disease, retinal dystrophies, and oral-facial-digital features.

GENES TESTED:

AHI1 ARL13B B9D1 B9D2 C5orf42 CC2D2A CEP104 CEP290 CEP41 CSPP1 INPP5E KIAA0586 KIF7 MKS1 MRE11 NPHP1 NPHP3 OFD1 PDE6D RPGRIP1L TCTN1 TCTN2 TCTN3 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TTC21B ZNF423

27 genes

Invitae Nephronophthisis Panel

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Genetic testing for 27 genes associated with nephronophthisis (NPHP), a condition characterized by renal and kidney cysts and end-stage renal disease.

GENES TESTED:

AHI1 ANKS6 CC2D2A CEP164 CEP290 CEP83 DCDC2 GLIS2 IFT172 INVS IQCB1 NEK8 NPHP1 NPHP3 NPHP4 OFD1 PKHD1 RPGRIP1L SDCCAG8 TCTN1 TMEM216 TMEM237 TMEM67 TTC21B WDR19 XPNPEP3 ZNF423

1 gene

Invitae Oral-Facial-Digital Syndrome Type 1 Test

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Genetic testing for the OFD1 gene, which is associated with oral-facial-digital syndrome type 1 (OFD1).

GENES TESTED:

OFD1

2 genes

Invitae Polycystic Kidney Disease Type 2 Panel

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Genetic testing for 2 genes associated with polycystic kidney disease, type 2 (PKD). PKD can be inherited as dominant (ADPKD) or recessive (ARPKD) and is characterized by end stage renal disease.

GENES TESTED:

PKD2 PKHD1

8 genes

Invitae Senior-Loken Syndrome Panel

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Genetic testing for eight genes associated with Senior-Loken syndrome (SLSN), a condition characterized by a combination of childhood retinal and renal disease. Developmental delay may also be associated.

GENES TESTED:

CEP290 INVS IQCB1 NPHP1 NPHP3 NPHP4 SDCCAG8 WDR19

up to 89 genes

Invitae Congenital Heart Defects and Heterotaxy Panel

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Genetic testing for up to 89 genes that are associated with isolated and syndromic heart defects; these conditions may include heterotaxy, transposition of the great arteries, ventricular and atrial septal defects, tetralogy of Fallot, dextrocardia, and primary ciliary dyskinesia (PCD).

GENES TESTED:

Primary Panel:
ACTC1 ACVR2B ALMS1 ANKS6 ARMC4 BBS10 BCOR BRAF C21orf59 CBL CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CCDC65 CCNO CEP290 CFAP53 CHD7 DNAAF1 DNAAF2 DNAAF3 DNAAF5 DNAH1 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2 DNAL1 DRC1 DYX1C1 ELN FOXH1 GAS8 GATA4 GDF1 GJA1 GPC3 HRAS INVS JAG1 KRAS LEFTY2 LRRC6 MAP2K1 MAP2K2 MCIDAS MED13L MEIS2 MKS1 NEK8 NF1 NKX2-5 NKX2-6 NME8 NODAL NOTCH1 NOTCH2 NPHP3 NR2F2 NRAS NSD1 OFD1 PTPN11 RAF1 RIT1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SHOC2 SOS1 SPAG1 TBX1 TBX5 TTC8 ZIC3 ZMYND10 ZNF423

Add-on Preliminary-evidence Genes for Congenital Heart Defects:
CFAP52 CRELD1 GATA6 HAND1 MYH6 SMAD6 ZFPM2

In addition to the primary panel, clinicians can also choose to include seven genes that have limited evidence of association with congenital heart defects (CHD). At this time, the association of these seven genes with CHD remains uncertain. However, some clinicians may wish to include genes that may prove to be clinically significant in the future. Visit our Preliminary-evidence genes page to learn more. These genes can be added at no additional charge.

5 genes

Invitae Chronic Pancreatitis Panel

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Chronic pancreatitis is characterized by persistent inflammation of the pancreas, acute and recurrent pain, maldigestion, and eventually diabetes mellitus.

GENES TESTED:

CASR CFTR CTRC PRSS1 SPINK1

up to 5 genes

Invitae Cystic Fibrosis Test

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This test analyzes CFTR, the primary gene associated with cystic fibrosis (CF), congenital absence of the vas deferens (CAVD), and CF-related disorders.

GENES TESTED:

Primary Panel:
CFTR

Add-on Chronic Pancreatitis Genes:
CASR CTRC PRSS1 SPINK1

CFTR is also associated with an increased risk of chronic pancreatitis (CP), a condition that results in irreversible morphological changes and impairment of both exocrine and endocrine functions. If clinically indicated, clinicians can include additional genes associated with chronic pancreatitis at no additional charge.

2 genes

Invitae Alagille Syndrome Panel

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Genetic testing for JAG1 and NOTCH2, which are associated with Alagille syndrome, a multisystem disorder characterized by heart defects, liver disease, and other anomalies.

GENES TESTED:

JAG1 NOTCH2

1 gene

Invitae Alpha Thalassemia X-linked Intellectual Disability Test

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Genetic testing for the ATRX gene, which is associated with alpha thalassemia X-linked intellectual disability syndrome.

GENES TESTED:

ATRX

2 genes

Invitae Baraitser-Winter Cerebrofrontofacial Syndrome Panel

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Genetic testing for two genes known to be associated with Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome, which is characterized by distinctive craniofacial features and intellectual disability.

GENES TESTED:

ACTB ACTG1

up to 3 genes

Invitae Branchiootorenal Spectrum Disorders Panel

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Genetic testing for the EYA1 and SIX1 genes, which are associated with branchiootorenal (BOR) syndrome and branchiootic syndrome (BOS), which are characterized by branchial arch abnormalities, renal malformations, and hearing loss.

GENES TESTED:

Primary Panel:
EYA1 SIX1

Add-on Townes-Brocks Syndrome Gene:
SALL1

Individuals with Townes-Brocks syndrome have highly variable phenotypic presentations and share ocular and renal system involvement with BOR and BOS. Given the significant overlap between the branchiootorenal spectrum disorders and Townes-Brocks syndrome, as well as the difficulty in differentiating between these disorders, analyzing the SALL1 gene, which is associated with Townes-Brocks syndrome, may be appropriate. The SALL1 gene can be included at no additional charge.

2 genes

Invitae Carpenter Syndrome Panel

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Genetic testing for the MEGF8 and RAB23 genes, which are the only two genes currently known to be associated with Carpenter syndrome.

GENES TESTED:

MEGF8 RAB23

1 gene

Invitae CASR-Related Conditions Test

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Genetic testing for the CASR gene, which is associated with benign familial hypocalciuric hypercalcemia (BFHH), neonatal severe hyperparathyroidism (NSHPT), familial isolated hyperparathyroidism (FIHP), and autosomal dominant hypocalcemia (ADH).

GENES TESTED:

CASR

1 gene

Invitae CHARGE Syndrome Test

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Genetic testing for CHD7, the gene associated with CHARGE syndrome. CHARGE syndrome is characterized by coloboma, heart defect, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies.

GENES TESTED:

CHD7

1 gene

Invitae CHOPS Syndrome Test

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Genetic testing for the AFF4 gene, which is associated with CHOPS syndrome. CHOPS syndrome is a rare, congenital malformation syndrome with phenotypic overlap with Cornelia de Lange syndrome. Individuals with CHOPS, however, have distinctive coarse facial features, obesity and pulmonary involvement.

GENES TESTED:

AFF4

1 gene

Invitae Coffin-Lowry Syndrome Test

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Genetic testing for RPS6KA3 (also known as RSK2), which is associated with Coffin-Lowry syndrome (CLS), a developmental disorder that is characterized by severe to profound intellectual disability in males and normal intellect or mild intellectual disability in heterozygous carrier females. Affected individuals may also experience brief moments of collapse when startled.

GENES TESTED:

RPS6KA3

1 gene

Invitae Cohen Syndrome Test

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Genetic testing for VPS13B (also known as COH1), which is associated with Cohen syndrome, a developmental disorder that is characterized by intellectual disability, microcephaly, hypotonia and truncal obesity.

GENES TESTED:

VPS13B

up to 6 genes

Invitae Cornelia de Lange Syndrome Panel

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Genetic testing for up to six genes that are associated with Cornelia de Lange syndrome (CdLS).

GENES TESTED:

Primary Panel:
HDAC8 NIPBL RAD21 SMC1A SMC3

Add-on Preliminary-evidence Gene for Cornelia de Lange Syndrome:
EP300

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more. The EP300 gene is also associated with autosomal dominant Rubinstein-Taybi syndrome (PMID: 24352918).

1 gene

Invitae Glass Syndrome Test

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Genetic sequencing testing for the SATB2 gene, which is associated with Glass syndrome, a condition that is characterized by intellectual disability and dysmorphic facial features.

GENES TESTED:

SATB2

1 gene

Invitae GLI3-Related Disorders Test

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Genetic testing for the GLI3 gene that is associated with Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome (PHS), postaxial polydactyly types A and B (PAP-A) (PAP-B),and preaxial polydactyly type IV (PPD-IV).

GENES TESTED:

GLI3

1 gene

Invitae HPRT1-Related Disorders test

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Genetic testing for the HPRT1 gene which is associated with a clinical spectrum of uric acid overproduction, including isolated hyperuricemia and gout at the mild end of the spectrum, and Lesch-Nyhan syndrome at the severe end of the spectrum.

GENES TESTED:

HPRT1

3 genes

Invitae Isolated Gonadotropin-Releasing Hormone Deficiency Panel

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Genetic testing for three genes, including ANOS1 ("KAL1"), that are associated with isolated gonadotropin-releasing hormone deficiency (IGD) and Kallman syndrome.

GENES TESTED:

ANOS1 CHD7 FGFR1

2 genes

Invitae Kabuki Syndrome Panel

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Genetic testing for the two genes known to be associated with Kabuki syndrome—a condition characterized by recognizable dysmorphic facial features, developmental delay, intellectual disability, and multiple congenital anomalies.

GENES TESTED:

KDM6A KMT2D

1 gene

Invitae KAT6B-Related Disorders Test

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Genetic testing for KAT6B-related disorders, including Say-Barber-Biesecker-Young-Simpson (SBBYSS) syndrome and genitopatellar syndrome (GPS), which are characterized by global developmental delay and intellectual disability, dysmorphic facies, hypotonia, cryptorchidism, and congenital heart defects.

GENES TESTED:

KAT6B

1 gene

Invitae KBG Syndrome Test

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Genetic testing for the ANKRD11 gene which is associated with KBG syndrome, a condition that is characterized by macrodontia of the central upper incisors, distinctive facial features, skeletal anomalies, seizures and intellectual disability.

GENES TESTED:

ANKRD11

1 gene

Invitae MED12-Related Disorders Test

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Genetic testing for the MED12 gene which is associated with a spectrum of developmental disorders which are characterized by hypotonia, abnormalities of the corpus callosum, intellectual disability and behavioral problems.

GENES TESTED:

MED12

1 gene

Invitae Oculo-Facio-Cardio-Dental Syndrome Test

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Genetic testing for BCOR, the primary gene associated with oculo-facio-cardio-dental (OFCD) syndrome and Lenz microphthalmia (LMS).

GENES TESTED:

BCOR

1 gene

Invitae PTEN-Related Disorders Test

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Genetic testing for PTEN pathogenic variants that are associated with PTEN hamartoma tumor syndrome and PTEN-related autism spectrum disorder.

GENES TESTED:

PTEN

1 gene

Invitae Renpenning Syndrome Test

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Genetic testing for the PQBP1 gene that is associated with Renpenning syndrome, a condition that is characterized by intellectual disability, microcephaly, short stature, and dysmorphic facial features.

GENES TESTED:

PQBP1

2 genes

Invitae Rubinstein-Taybi Syndrome Panel

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Genetic testing for two genes associated with Rubinstein-Taybi syndrome (RSTS), a developmental disorder that is characterized by short stature, distinctive facial features, broad thumbs angulated thumbs and great toes, and intellectual disability.

GENES TESTED:

CREBBP EP300

1 gene

Invitae Simpson-Golabi-Behmel Syndrome Test

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Genetic testing for the gene GPC3, which is associated with Simpson-Golabi-Behmel syndrome (SGBS1), an overgrowth condition with distinctive facies and risk for embryonal tumors.

GENES TESTED:

GPC3

1 gene

Invitae Smith-Lemli-Opitz Syndrome Test

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Genetic testing for DHCR7, which is associated with Smith-Lemli-Opitz syndrome (SLOS), a developmental disorder characterized by growth retardation, distinctive facial features, hypotonia, intellectual disability, and multiple congenital anomalies including cleft palate, 2-3 toe syndactyly and abnormal external genitalia.

GENES TESTED:

DHCR7

1 gene

Invitae Sotos Syndrome Test

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Genetic testing for NSD1, the primary gene associated with Sotos syndrome; characterized by distinct facial features, excessive growth during childhood, macrocephaly, and mild-to-severe learning disability.

GENES TESTED:

NSD1

2 genes

Invitae van der Woude Syndrome Panel

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Genetic testing for two genes that are associated with van der Woude syndrome (VDWS), which is characterized by cleft lip or cleft palate and by bilateral paramedian lower lip pits.

GENES TESTED:

GRHL3 IRF6

1 gene

Invitae von Hippel-Lindau Syndrome Test

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Genetic testing for VHL which is associated with von Hippel-Lindau syndrome (VHL).

GENES TESTED:

VHL

2 genes

Invitae WAGR Syndrome Test

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Genetic testing for the WT1 and PAX6 genes, which are part of a contiguous gene deletion associated with WAGR syndrome.

GENES TESTED:

PAX6 WT1

1 gene

Invitae Weaver Syndrome Test

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Genetic testing for the EZH2 gene, which is associated with Weaver syndrome—an overgrowth condition with distinctive facies, skeletal findings, and intellectual disability.

GENES TESTED:

EZH2

up to 15 genes

Invitae Disorders of Male Sex Development Panel

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Genetic testing for up to 15 genes that are associated with non-syndromic male sex reversal or ambiguous genitalia caused by 46,XY disorder of sex development (DSD) or 46,XY complete gonadal dysgenesis (CGD).

GENES TESTED:

Primary Panel:
AR DHH MAP3K1 NR0B1 NR5A1 SRD5A2 SRY WT1

Add-on Kallman Syndrome Genes:
ANOS1 CHD7 FGFR1 HESX1

In a 46,XY individual with ambiguous or underdeveloped genitalia (hypogonadotrophic hypogonadism) and an absence of the sense of smell, a diagnosis of Kallman syndrome may tested by including the ANOS, CHD7, FGFR1, and HESX1 genes for no additional charge. Please note, the HESX1 gene has preliminary evidence in association with Kallman syndrome. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future.

Add-on Alpha-thalassemia X-linked Intellectual Disability Gene:
ATRX

In a 46,XY individual with ambiguous genitalia, intellectual disability, characteristic dysmorphic facies, and alpha thalassemia, testing for ATRX may be indicated and can be included at no additional charge.

Add-on Campomelic Dysplasia Gene:
SOX9

In a 46,XY individual with ambiguous genitalia and congenital bowing of long bones, a suspected diagnosis of campomelic dysplasia can be evaluated by testing the SOX9 gene. This gene can be tested at no additional charge.

Add-on Smith-Lemli-Opitz Syndrome Gene:
DHCR7

In a 46,XY individual with ambiguous genitalia and a syndromic phenotype that is consistent with Smith-Lemli-Opitz syndrome and corroborated by an abnormal biochemical profile showing elevated serum concentration of 7-dehydrocholesterol (7-DHC) reductase. Testing of the DHCR7 gene is available at no additional charge.

2 genes

Invitae Androgen Insensitivity Panel

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Genetic testing for two genes, AR and SRD5A2, that are associated with androgen insensitivity syndrome (AIS).

GENES TESTED:

AR SRD5A2

3 genes

Invitae Isolated Gonadotropin-Releasing Hormone Deficiency Panel

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Genetic testing for three genes, including ANOS1 ("KAL1"), that are associated with isolated gonadotropin-releasing hormone deficiency (IGD) and Kallman syndrome.

GENES TESTED:

ANOS1 CHD7 FGFR1

up to 189 genes

Invitae Epilepsy Panel

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Genetic testing for up to 189 genes associated with syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent unprovoked seizures.

GENES TESTED:

Primary Panel:
ADSL ALDH5A1 ALDH7A1 ALG13 ARHGEF9 ARX ATP1A2 ATP1A3 ATRX BRAT1 C12orf57 CACNA2D2 CASK CDKL5 CHD2 CHRNA2 CHRNA4 CHRNB2 CLN2 (TPP1) CLN3 CLN5 CLN6 CLN8 CNTNAP2 CSTB CTSD DEPDC5 DNAJC5 DNM1 DYRK1A EEF1A2 EFHC1 EHMT1 EPM2A FOLR1 FOXG1 FRRS1L GABRA1 GABRB3 GABRG2 GAMT GATM GLRA1 GNAO1 GOSR2 GRIN1 GRIN2A GRIN2B HCN1 HNRNPU IER3IP1 IQSEC2 ITPA KANSL1 KCNA2 KCNB1 KCNC1 KCNH2 KCNJ10 KCNQ2 KCNQ3 KCNT1 KCTD7 KIAA2022 LGI1 LIAS MBD5 MECP2 MEF2C MFSD8 NGLY1 NHLRC1 NRXN1 PACS1 PCDH19 PIGA PIGN PIGO PLCB1 PNKD PNKP PNPO POLG PPT1 PRICKLE1 PRRT2 PURA QARS ROGDI SATB2 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SERPINI1 SGCE SLC13A5 SLC19A3 SLC25A22 SLC2A1 SLC35A2 SLC6A1 SLC6A8 SLC9A6 SMC1A SNX27 SPATA5 SPTAN1 STX1B STXBP1 SYN1 SYNGAP1 SYNJ1 SZT2 TBC1D24 TCF4 TSC1 TSC2 UBE3A WWOX ZDHHC9 ZEB2

Add-on Preliminary-evidence Genes for Epilepsy:
ABAT ARHGEF15 ATP6AP2 CACNA1A CACNA1H CACNB4 CARS2 CASR CBL CERS1 CLCN4 CNTN2 COQ4 CPA6 DIAPH1 DOCK7 FARS2 FASN GABBR2 GABRB2 GABRD GAL GPHN JMJD1C KCNA1 KCND2 KCNH5 KCNMA1 KPNA7 LMNB2 MTOR NECAP1 NEDD4L NPRL3 PIGG PIGQ PIK3AP1 PRDM8 PRICKLE2 PRIMA1 RBFOX1 RBFOX3 RELN RYR3 SCN5A SETD2 SIK1 SLC12A5 SLC25A12 SLC35A3 SNAP25 SRPX2 ST3GAL3 ST3GAL5 STRADA TBL1XR1 TPK1 WDR45

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on Genes for Glycine Encephalopathy:
AMT GCSH GLDC

In addition to the primary panel, clinicians can choose to include three genes that are associated with glycine encephalopathy, which can cause encephalopathy, hypotonia, seizures, and elevated plasma and CSF glycine levels. If clinically indicated, these gene can be added at no additional charge.

Add-on FLNA Gene:
FLNA

In addition to the primary Epilepsy panel, clinicians can choose to include the FLNA gene that is associated with disorders that are broadly categorized as neuronal migration disorders and otopalatodigital spectrum disorders. Periventricular nodular heterotopia is a neuronal migration disorder characterized by seizures and nodules lining the edges of the lateral cerebral ventricles, along with variable presence of persistent patent ductus arteriosus, coagulopathy, connective tissue and vascular anomalies, and/or gastrointestinal dysmotility (PMID: 15917206, 19917821). Periventricular nodular heterotopia predominantly affects females due to the severity of this condition in males (PMID: 15917206). If clinically indicated, this gene can be added at no additional charge.

Add-on PTEN Gene:
PTEN

In addition to the primary Epilepsy panel, clinicians can choose to include the PTEN gene that is associated with PTEN-related autism spectrum disorder (ASD), with or without macrocephaly. ASDs are characterized by impairments in social interactions and communication, developmental delays, and restricted and/or repetitive behaviors. Autism is often associated with other neurological conditions including epilepsy (PMID: 20510557, 24580998). If clinically indicated, this gene can be added at no additional charge.

Add-on RANBP2 Gene:
RANBP2

In addition to the primary panel, clinicians can choose to include the RANBP2 gene that is associated with infection-induced acute necrotizing encephalopathy, an environmentally triggered disease in which previously healthy children develop encephalopathy, seizures, and rapid progression to coma, typically within days of onset of a common febrile infection (PMID: 19118815). If clinically indicated, this gene can be added at no additional charge.

up to 5 genes

Invitae Alternating Hemiplegia of Childhood Panel

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Genetic testing for two genes that are associated with alternating hemiplegia of childhood (AHC), a rare neurological condition characterized by childhood onset of recurrent hemi- or quadriplegia, progressive cognitive decline and other variable neurological findings including dystonia, choreoathetoid movements, and seizures.

GENES TESTED:

Primary Panel:
ATP1A2 ATP1A3

Add-on Clinically-overlapping Genes:
CACNA1A SCN1A SLC2A1

AHC can clinically overlap with other disorders including familial hemiplegic migraine (FHM) and GLUT1 deficiency. In addition to the primary panel, clinicians can choose to include these clinically overlapping genes. FHM is characterized by migraine headaches with aura and affected individuals may also experience hemiparesis, seizures, ataxia, fever, visual and speaking difficulties, confusion, and loss of consciousness (PMID: 24498617, 18028456, 16437583, 18644608, 12953268, 16110494). Classic GLUT1 deficiency is characterized by infantile or childhood-onset treatment-resistant epilepsy, intellectual disability, microcephaly, complex movement disorders, and low cerebrospinal fluid glucose levels (PMID: 19304421). If clinically indicated, these gene can be added at no additional charge.

2 genes

Invitae Baraitser-Winter Cerebrofrontofacial Syndrome Panel

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Genetic testing for two genes known to be associated with Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome, which is characterized by distinctive craniofacial features and intellectual disability.

GENES TESTED:

ACTB ACTG1

3 genes

Invitae Cerebral Cavernous Malformations Panel

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Genetic testing for three genes that are associated with familial cerebral cavernous malformations (CCM).

GENES TESTED:

CCM2 KRIT1 PDCD10

1 gene

Invitae CHARGE Syndrome Test

Order

Genetic testing for CHD7, the gene associated with CHARGE syndrome. CHARGE syndrome is characterized by coloboma, heart defect, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies.

GENES TESTED:

CHD7

up to 63 genes

Invitae Early Infantile Epileptic Encephalopathy Panel

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Genetic testing for up to 63 genes associated with early infantile epileptic encephalopathy (EIEE, also known as Ohtahara syndrome), a condition commonly characterized by intractable seizures within the first three months of life and a classic EEG suppression-burst pattern.

GENES TESTED:

Primary Panel:
ALDH7A1 ARHGEF9 ARX BRAT1 CACNA2D2 CASK CDKL5 CHD2 DNM1 EEF1A2 FOLR1 FRRS1L GABRA1 GABRB3 GNAO1 GRIN1 GRIN2B HCN1 HNRNPU IER3IP1 KCNA2 KCNB1 KCNQ2 KCNQ3 KCNT1 PCDH19 PIGA PIGN PIGO PLCB1 PNKP PNPO PURA SCN1A SCN2A SCN8A SCN9A SLC13A5 SLC25A22 SLC2A1 SLC35A2 SLC6A1 SMC1A SPTAN1 STXBP1 SYNGAP1 SZT2 TBC1D24 WWOX

Add-on Preliminary-evidence Genes for Early Infantile Epileptic Encephalopathy:
ARHGEF15 CLCN4 COQ4 DOCK7 GABBR2 GPHN KCNH5 MTOR NECAP1 NEDD4L SCN1B SIK1 SLC12A5 ST3GAL3

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 9 genes

Invitae Holoprosencephaly Panel

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Genetic testing for up to nine genes that are associated with holoprosencephaly (HPE), a spectrum of brain malformations ranging from a single central upper incisor to complete failed separation of the cerebral hemispheres.

GENES TESTED:

Primary Panel:
GLI2 SHH SIX3 TGIF1 ZIC2

Add-on Preliminary-evidence Genes for Holoprosencephaly:
CDON FOXH1 NODAL PTCH1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 14 genes

Invitae Neurodegeneration with Brain Iron Accumulation Panel

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Genetic testing for up to 14 genes that are associated with neurodegeneration with brain iron accumulation (NBIA).

GENES TESTED:

Primary Panel:
ATP13A2 C19orf12 COASY CP DCAF17 FTL FUCA1 PANK2 PLA2G6 SQSTM1 WDR45

Add-on Preliminary-evidence Genes for Neurodegeneration with Brain Iron Accumulation:
FA2H KIF1A TRIM32

In addition to the primary panel, clinicians can also choose to include three genes that have preliminary evidence of association with NBIA. At this time, the association of these three genes with NBIA remains preliminary. However, some clinicians may wish to include genes that may prove to be clinically significant in the future. Visit our Preliminary-evidence genes page to learn more.

up to 26 genes

Invitae Rett and Angelman Syndromes and Related Disorders Panel

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Genetic testing for up to 26 genes associated with Rett and Angelman syndromes and related early-onset developmental disorders in which epilepsy, developmental delay and intellectual disability are prominent findings.

GENES TESTED:

Primary Panel:
ADSL ALDH5A1 ATRX CDKL5 CNTNAP2 DYRK1A EHMT1 FOXG1 IQSEC2 KANSL1 MBD5 MECP2 MEF2C NGLY1 NRXN1 SATB2 SCN8A SLC9A6 STXBP1 TCF4 UBE3A ZEB2

Add-on Preliminary-evidence Genes for Rett and Angelman Syndromes and Related Disorders:
GABRD JMJD1C TBL1XR1 WDR45

In addition to the primary panel, clinicians can also choose to include genes that have preliminary evidence of association with early-onset developmental disorders that overlap with Rett and Angelman syndromes. However, some clinicians may wish to include genes that may prove to be clinically significant in the future. Visit our Preliminary-evidence genes page to learn more.

2 genes

Invitae Tuberous Sclerosis Complex Panel

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Genetic testing for TSC1 and TSC2 which are associated with tuberous sclerosis complex (TSC) featuring kidney, brain, skin, lung, and heart tumors.

GENES TESTED:

TSC1 TSC2

1 gene

Invitae Aniridia Test

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Genetic testing for PAX 6, the primary gene associated with aniridia and Gillespie syndrome.

GENES TESTED:

PAX6

up to 3 genes

Invitae Axenfeld-Rieger Panel

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Genetic testing of the FOXC1 and PITX2 genes, which are associated with Axenfeld-Rieger syndrome (ARS).

GENES TESTED:

Primary Panel:
FOXC1 PITX2

Add-on Aniridia Gene:
PAX6

Aniridia may be diagnosed as severe iris hypoplasia associated with ARS. The PAX6 gene can be included for testing at no additional charge.

16 genes

Invitae Bardet-Biedl Syndrome Panel

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Genetic testing for 16 genes associated with Bardet-Biedl syndrome (BBS), a condition characterized by truncal obesity, cognitive impairment, rod-cone dystrophy and renal abnormalities.

GENES TESTED:

ARL6 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CEP290 MKKS MKS1 SDCCAG8 TRIM32 TTC8 WDPCP

1 gene

Invitae CHARGE Syndrome Test

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Genetic testing for CHD7, the gene associated with CHARGE syndrome. CHARGE syndrome is characterized by coloboma, heart defect, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies.

GENES TESTED:

CHD7

1 gene

Invitae Choroideremia Test

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Genetic testing for the CHM gene which is associated with choroideremia, a condition that is characterized by chorioretinal degeneration.

GENES TESTED:

CHM

up to 38 genes

Invitae Congenital Cataracts Panel

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Genetic testing for up to 38 genes that are associated with the development of congenital and early-onset cataracts.

GENES TESTED:

Primary Panel:
AGK BCOR BFSP1 BFSP2 CRYAA CRYAB CRYBA1 CRYBB1 CRYBB2 CRYBB3 CRYGC CRYGD CRYGS CTDP1 EPHA2 FAM126A FOXC1 FYCO1 GALK1 GCNT2 GJA3 GJA8 HSF4 MAF MIP NHS OCRL PAX6 PITX2 PITX3 SIL1 VSX2

Add-on Preliminary-evidence Genes for Congenital Cataracts:
CHMP4B CRYBA4 CRYGB LIM2 TDRD7 VIM

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

1 gene

Invitae Duane-Radial Ray Syndrome Test

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Genetic testing for SALL4, which is associated with Duane-Radial Ray syndrome (DRRS), a condition that is characterized by acro-renal-ocular anomalies.

GENES TESTED:

SALL4

3 genes

Invitae Early-Onset Glaucoma Panel

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Genetic testing for CYP1B1, which is associated with primary congenital glaucoma, as well as for FOXC1 and PITX2, which are associated with Axenfeld-Rieger syndrome (ARS). Early-onset glaucoma is a common finding of ARS.

GENES TESTED:

CYP1B1 FOXC1 PITX2

up to 21 genes

Invitae Leber Congenital Amaurosis Panel

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Genetic testing for up to 21 genes that are associated with Leber congenital amaurosis (LCA), which is characterized by blindness or severe vision loss typically presenting in infancy.

GENES TESTED:

Primary Panel:
AIPL1 CEP290 CRB1 CRX GDF6 GUCY2D IQCB1 KCNJ13 LCA5 LRAT NMNAT1 OTX2 PRPH2 RD3 RDH12 RPE65 RPGRIP1 SPATA7 TULP1

Add-on Preliminary-evidence Genes for Leber Congenital Amaurosis:
BBS4 IMPDH1

In addition to the primary panel, clinicians can also choose to include two genes that have preliminary evidence of association with Leber congenital amaurosis. At this time, the association of these two genes with Leber congenital amaurosis remains uncertain. However, some clinicians may wish to include genes that may prove to be clinically significant in the future. Visit our Preliminary-evidence genes page to learn more. These genes can be added at no additional charge.

up to 20 genes

Invitae Microphthalmia/Anophthalmia Disorders Panel

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Genetic testing for up to 20 genes associated with microphthalmia and/or anophthalmia, which is characterized by an absent or abnormally small eye with a short axial length.

GENES TESTED:

Primary Panel:
ALDH1A3 BCOR BMP4 FOXE3 GDF6 MFRP OTX2 PAX2 PRSS56 PXDN RAX SHH SOX2 STRA6 VSX2

Add-on Preliminary-evidence Genes for Microphthalmia/Anophthalmia Disorders:
GDF3 HESX1 MAB21L2 RARB VAX1

In addition to the primary panel, clinicians can also choose to include five genes that have preliminary evidence of association with microphthalmia/anophthalmia. At this time, the association of these five genes with microphthalmia/anophthalmia remains uncertain. However, some clinicians may wish to include genes that may prove to be clinically significant in the future. Visit our Preliminary-evidence genes page to learn more.

1 gene

Invitae Oculo-Facio-Cardio-Dental Syndrome Test

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Genetic testing for BCOR, the primary gene associated with oculo-facio-cardio-dental (OFCD) syndrome and Lenz microphthalmia (LMS).

GENES TESTED:

BCOR

1 gene

Invitae Retinoblastoma Test

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Genetic testing of the RB1 gene for hereditary retinoblastoma; other cancer risks include pinealoma, osteosarcoma, soft tissue sarcomas, and melanoma.

GENES TESTED:

RB1

8 genes

Invitae Senior-Loken Syndrome Panel

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Genetic testing for eight genes associated with Senior-Loken syndrome (SLSN), a condition characterized by a combination of childhood retinal and renal disease. Developmental delay may also be associated.

GENES TESTED:

CEP290 INVS IQCB1 NPHP1 NPHP3 NPHP4 SDCCAG8 WDR19

up to 25 genes

Invitae Overgrowth and Macrocephaly Syndromes Panel

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Genetic testing for up to 25 genes associated with overgrowth and macrocephaly.

GENES TESTED:

Primary Panel:
AKT2 AKT3 CDKN1C CUL4B DIS3L2 DNMT3A EZH2 GLI3 GPC3 KPTN MED12 NF1 NFIX NPR2 NSD1 PHF6 PIK3R2 PTEN SETD2 SPRED1

Add-on Preliminary-evidence Genes for Overgrowth and Macrocephaly Syndromes:
DICER1 EED PDGFRB RNF125 UPF3B

In addition to the primary panel, clinicians can also choose to include four genes that have preliminary evidence of association with overgrowth and macrocephaly. At this time, the association of these four genes with overgrowth and macrocephaly remains preliminary. However, some clinicians may wish to include genes that may prove to be clinically significant in the future. Visit our Preliminary-evidence genes page to learn more. These genes can be added at no additional charge.

1 gene

Invitae Perlman Syndrome Test

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Genetic testing for the gene DIS3L2, which is associated with Perlman syndrome, a congenital overgrowth condition that is characterized by high neonatal mortality, distinctive facies, multiple congenital anomalies, and Wilms tumor susceptibility.

GENES TESTED:

DIS3L2

1 gene

Invitae Proteus Syndrome Test

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Genetic testing for the AKT1 gene which is associated with Proteus syndrome, an overgrowth syndrome caused by a mosaic pathogenic AKT1 variant, c.49G>A (p.Glu17Lys) and characterized by asymmetric overgrowth of bone, skin and other tissues.

GENES TESTED:

AKT1

1 gene

Invitae PTEN-Related Disorders Test

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Genetic testing for PTEN pathogenic variants that are associated with PTEN hamartoma tumor syndrome and PTEN-related autism spectrum disorder.

GENES TESTED:

PTEN

1 gene

Invitae Simpson-Golabi-Behmel Syndrome Test

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Genetic testing for the gene GPC3, which is associated with Simpson-Golabi-Behmel syndrome (SGBS1), an overgrowth condition with distinctive facies and risk for embryonal tumors.

GENES TESTED:

GPC3

1 gene

Invitae Sotos Syndrome Test

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Genetic testing for NSD1, the primary gene associated with Sotos syndrome; characterized by distinct facial features, excessive growth during childhood, macrocephaly, and mild-to-severe learning disability.

GENES TESTED:

NSD1

1 gene

Invitae Weaver Syndrome Test

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Genetic testing for the EZH2 gene, which is associated with Weaver syndrome—an overgrowth condition with distinctive facies, skeletal findings, and intellectual disability.

GENES TESTED:

EZH2

18 genes

Invitae RASopathies Comprehensive Panel

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Genetic testing for 18 genes that are associated with RASopathies (also known as Noonan spectrum disorders)—a class of pediatric disorders whose spectrum of symptoms include distinctive facial features, heart defects, developmental delay, and an increased risk of malignancies.

GENES TESTED:

A2ML1 BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RAF1 RASA1 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1

6 genes

Invitae Cardio-Facio-Cutaneous Syndrome Panel

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Genetic testing for 6 genes associated with cardio-facio-cutaneous (CFC) syndrome—characterized by symptoms affecting the heart, facial features, skin, hair, and cognition.

GENES TESTED:

BRAF KRAS MAP2K1 MAP2K2 SHOC2 SOS1

1 gene

Invitae Costello Syndrome Test

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Genetic testing for HRAS, the gene associated with Costello syndrome—characterized by coarse facial features, intellectual disability, failure to thrive, and childhood malignancy.

GENES TESTED:

HRAS

up to 2 genes

Invitae Legius Syndrome Test

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Genetic testing for Legius syndrome, a condition with clinical overlap with neurofibromatosis type 1 and characterized by café-au-lait spots, axillary and inguinal freckling, macrocephaly and lipomas.

GENES TESTED:

Primary Panel:
SPRED1

Add-on Neurofibromatosis Type 1 Gene:
NF1

The RASopathies exhibit numerous overlapping phenotypic features due to their common underlying Ras/MAPK pathway dysregulation. Legius syndrome overlaps clinically with neurofibromatosis type 1 (NF1): Both are characterized by the presence of multiple café-au-lait spots and axillary and inguinal freckling, but Legius syndrome lacks NF1-specific features like neurofibromas, Lisch nodules, and optic gliomas. For this reason (and depending on the clinical presentation of the patient), clinicians may wish to include NF1 in this test for a broader analysis.

up to 2 genes

Invitae Neurofibromatosis Type 1 Test

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This test analyzes the NF1 gene, which is associated with neurofibromatosis type 1. Features include café-au-lait macules, neurofibromas, axillary/inguinal freckling, and Lisch nodules.

GENES TESTED:

Primary Panel:
NF1

Add-on Legius Syndrome Gene:
SPRED1

The RASopathies exhibit several overlapping phenotypic features due to their common underlying Ras/MAPK pathway dysregulation. NF1 overlaps clinically with Legius syndrome. Both syndromes are characterized by the presence of multiple café-au-lait spots and axillary and inguinal freckling, but NF1 has the additional features of neurofibromas, Lisch nodules, and optic gliomas. SPRED1 is the gene associated with Legius syndrome. Depending on the clinical presentation of the patient, clinicians may wish to include SPRED1 in this test for a broader analysis.

up to 16 genes

Invitae Noonan Syndrome Panel

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Genetic testing for up to 16 genes associated with Noonan syndrome—characterized by any combination of facial dysmorphology, congenital heart disease, short stature, and/or malignancy.

GENES TESTED:

Primary Panel:
A2ML1 BRAF CBL KRAS MAP2K1 MAP2K2 NRAS PTPN11 RAF1 RIT1 RRAS SHOC2 SOS1 SOS2

Add-on Baraitser-Winter Syndrome Gene:
ACTB ACTG1

Some clinical features of Noonan syndrome overlap with Baraitser-Winter Cerebrofrontofacial (BWCFF) syndrome, a rare autosomal dominant developmental disorder characterized by multiple congenital anomalies and intellectual disability. If analysis for Baraitser Winter Cerebrofrontofacial syndrome has not been performed previously, adding this panel to this analysis may be considered. This panel can be ordered at no additional cost.

3 genes

Invitae Noonan Syndrome with Multiple Lentigines Panel

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Genetic testing for 3 genes associated with Noonan syndrome with multiple lentigines (NSML)—characterized by multiple lentigines, cardiac abnormalities, dysmorphic features, pulmonary stenosis, abnormal genitalia, short stature, and deafness.

GENES TESTED:

BRAF PTPN11 RAF1

up to 2 genes

Invitae Antley-Bixler syndrome Test

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Genetic testing for the POR gene which is associated with Antley-Bixler syndrome (ABS), a condition that is characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, and joint contractures as well as genitourinary anomalies and impaired steroidogenesis.

GENES TESTED:

Primary Panel:
POR

Add-on Craniosynostosis Gene:
FGFR2

Clinicians can also choose to include the FGFR2 single gene test. ABS demonstrates significant clinical overlap with craniosynostosis caused by mutations of the FGFR2 gene. Given the phenotypic similarity between these two conditions, analysis of the FGFR2 gene may be appropriate. This gene may be included at no additional charge.

up to 2 genes

Invitae ARSE-Related Chondrodysplasia Punctata Test

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Genetic testing for ARSE, which is associated with chondrodysplasia punctata (CDP), a bone-and-cartilage-development disorder.

GENES TESTED:

Primary Panel:
ARSE

Add-on NSDHL-Related Disorders Gene:
NSDHL

NSDHL-related disorders have clinical findings that overlap with chondrodysplasia punctata (CDP). In addition to CDP, individuals with CHILD syndrome have ichthyosis, limb defects, and visceral anomalies. Depending on the clinical presentation of the patient, clinicians may wish to broaden the analysis by including NSDHL. This gene can be added at no additional charge.

1 gene

Invitae Campomelic Dysplasia Test

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Genetic testing for SOX9, the gene associated with campomelic dysplasia (CD).

GENES TESTED:

SOX9

up to 11 genes

Invitae Craniosynostosis Panel

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Genetic testing for up to 11 genes that are associated with isolated and syndromic forms of craniosynostosis.

GENES TESTED:

Primary Panel:
ERF FGFR1 FGFR2 FGFR3 GLI3 MEGF8 MSX2 RAB23 TWIST1

Add-on 3MC and Treacher-Collins Syndrome Genes:
MASP1 TCOF1

Craniosynostosis is a prominent feature in 3MC syndrome (MASP1) and Treacher Collins syndrome (TCOF1). If clinically indicated, clinicians can choose to include these genes at no additional charge.

1 gene

Invitae Duane-Radial Ray Syndrome Test

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Genetic testing for SALL4, which is associated with Duane-Radial Ray syndrome (DRRS), a condition that is characterized by acro-renal-ocular anomalies.

GENES TESTED:

SALL4

2 genes

Invitae Ellis-van Creveld and Weyers Acrofacial Dysostosis Panel

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Genetic testing for two genes which are associated with Ellis-van Creveld (EvC) and Weyers acrofacial dysostosis (WAD), which are characterized by variable developmental defects involving the skeletal system, ectoderm, and cardiovascular system.

GENES TESTED:

EVC EVC2

1 gene

Invitae FGFR3-Related Disorders Test

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Genetic testing for the FGFR3 gene, which is associated with a group of disorders of skeletal dysplasias and craniosynostosis syndromes.

GENES TESTED:

FGFR3

up to 3 genes

Invitae Hereditary Multiple Osteochondromas Panel

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Genetic testing for the EXT1 and EXT2 genes that are associated with hereditary multiple osteochondromas (HMO), a condition that is characterized primarily by multiple cartilage-capped bone growths, known as osteochondromas or osteocartilaginous exostoses.

GENES TESTED:

Primary Panel:
EXT1 EXT2

Add-on Langer-Giedion Syndrome Gene:
TRPS1

Contiguous deletions of the TRPS1 and EXT1 genes cause Langer-Giedion syndrome, which is characterized by multiple osteochondromas and distinctive facial and skeletal features. In individuals with multiple osteochondromas and additional distinctive facial features such as sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose, protruding ears, long flat philtrum and thin upper vermillion border, analysis of the TRPS1 gene may be considered. This gene can be added at no additional charge.

1 gene

Invitae Holt-Oram Syndrome Test

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Genetic testing for TBX5, which is the primary gene associated with Holt-Oram syndrome (HOS), a disorder characterized by upper-limb abnormalities and heart defects.

GENES TESTED:

TBX5

1 gene

Invitae NSDHL-Related Disorders Test

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Genetic testing for the NSDHL gene which is associated with congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome and CK syndrome.

GENES TESTED:

NSDHL

4 genes

Invitae Osteogenesis Imperfecta Panel

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Genetic testing for four genes that are associated with osteogenesis imperfecta (OI), a condition characterized by bone fragility and that results in fractures despite minimal trauma.

GENES TESTED:

COL1A1 COL1A2 CRTAP P3H1

up to 18 genes

Invitae Skeletal Ciliopathies Panel

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Genetic testing for up to 18 genes that are associated with skeletal ciliopathies including short-rib thoracic dystrophy (SRTD), asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld syndrome (EVC), Weyers acrofacial dysostosis (WAD), Mainzer-Saldino syndrome (MZSDS), oral-facial digital syndrome type IV (OFD IV) and cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome.

GENES TESTED:

Primary Panel:
CEP120 CSPP1 DYNC2H1 EVC EVC2 IFT122 IFT140 IFT172 IFT80 KIAA0586 NEK1 TCTN3 TTC21B WDR19 WDR34 WDR35 WDR60

Add-on FGFR3-related Thanatophoric Dysplasia Gene:
FGFR3

Individuals with FGFR3-related thanatophoric dysplasia may share clinical features with the skeletal ciliopathies. Given the significant overlap and the difficulty in differentiating between these disorders, analyzing the FGFR3 gene may be appropriate. This gene may be included at no additional charge.

1 gene

Invitae Thrombocytopenia-Absent Radius Syndrome Test

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Genetic testing for the RBM8A gene which is associated with thrombocytopenia-absent radius syndrome (TAR) and is the commonly deleted gene in the 1q21.1 microdeletion syndrome.

GENES TESTED:

RBM8A

1 gene

Invitae Townes-Brocks Syndrome Test

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Genetic testing for the SALL1 gene, which is associated with Townes-Brocks syndrome (TBS), a condition that is characterized by imperforate anus, dysplastic ears, hearing loss, thumb malformations, renal impairment, and congenital heart defects.

GENES TESTED:

SALL1

1 gene

Invitae Treacher-Collins Syndrome Test

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Genetic testing for the TCOF1 gene, which is associated with Treacher Collins syndrome, a condition that is characterized by hypoplasia of the facial bones—particularly the cheek and jaw bones—as well as ear abnormalities and coloboma.

GENES TESTED:

TCOF1

2 genes

Invitae Trichorhinophalangeal Syndrome Panel

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Genetic testing for the TRPS1 and EXT1 genes that are associated with trichorhinophalangeal syndrome (TRPS), a condition that is characterized primarily by short stature, cone-shaped epiphyses, brachydactyly, and sparse hair. Contiguous deletions of the TRPS1 and EXT1 genes cause TRPS type 2, also known as Langer-Giedion syndrome, which is characterized by multiple osteochondromas and distinctive facial and skeletal features.

GENES TESTED:

EXT1 TRPS1

1 gene

Invitae Ulnar-Mammary Syndrome Test

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Genetic testing for the TBX3 gene which is associated with ulnar-mammary syndrome (UMS), a condition that is characterized by upper limb defects, mammary and apocrine gland hypoplasia, and genital abnormalities.

GENES TESTED:

TBX3

6 genes

Invitae Cardio-Facio-Cutaneous Syndrome Panel

Order

Genetic testing for 6 genes associated with cardio-facio-cutaneous (CFC) syndrome—characterized by symptoms affecting the heart, facial features, skin, hair, and cognition.

GENES TESTED:

BRAF KRAS MAP2K1 MAP2K2 SHOC2 SOS1

up to 10 genes

Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel

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Genetic testing for up to 10 genes that are associated ectodermal dysplasia (ED), a group of conditions characterized by abnormal development of skin, hair, teeth, nails, and sweat glands.

GENES TESTED:

Primary Panel:
EDA EDAR EDARADD LTBP3 MSX1 NFKBIA PAX9 WNT10A

Add-on Clouston Syndrome and TP63-related Disorder Genes:
GJB6 TP63

Ectodermal dysplasia is a shared feature observed in Clouston syndrome (GJB62) and TP63-related disorders. In addition to ectodermal dysplasia, Clouston syndrome is also characterized by palmoplantar hyperkeratosis. TP63-related disorders represent a class of overlapping phenotypes that share a common spectrum of features including variable forms of ectodermal dysplasia, cleft lip/palate, hypopigmented skin, split-hand/foot malformation and/or syndactyly, and hypoplasia of the breasts and/or nipples. Depending on the clinical presentation of the patient, clinicians may wish to broaden analysis by including these genes at no additional charge.

up to 2 genes

Invitae Legius Syndrome Test

Order

Genetic testing for Legius syndrome, a condition with clinical overlap with neurofibromatosis type 1 and characterized by café-au-lait spots, axillary and inguinal freckling, macrocephaly and lipomas.

GENES TESTED:

Primary Panel:
SPRED1

Add-on Neurofibromatosis Type 1 Gene:
NF1

The RASopathies exhibit numerous overlapping phenotypic features due to their common underlying Ras/MAPK pathway dysregulation. Legius syndrome overlaps clinically with neurofibromatosis type 1 (NF1): Both are characterized by the presence of multiple café-au-lait spots and axillary and inguinal freckling, but Legius syndrome lacks NF1-specific features like neurofibromas, Lisch nodules, and optic gliomas. For this reason (and depending on the clinical presentation of the patient), clinicians may wish to include NF1 in this test for a broader analysis.

3 genes

Invitae Noonan Syndrome with Multiple Lentigines Panel

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Genetic testing for 3 genes associated with Noonan syndrome with multiple lentigines (NSML)—characterized by multiple lentigines, cardiac abnormalities, dysmorphic features, pulmonary stenosis, abnormal genitalia, short stature, and deafness.

GENES TESTED:

BRAF PTPN11 RAF1

1 gene

Invitae PTEN-Related Disorders Test

Order

Genetic testing for PTEN pathogenic variants that are associated with PTEN hamartoma tumor syndrome and PTEN-related autism spectrum disorder.

GENES TESTED:

PTEN

1 gene

Invitae TP63-Related Disorders Test

Order

Genetic testing for the TP63 gene which is associated with autosomal dominant acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome, ectrodactyly, ectodermal dysplasia, and and cleft lip/palate syndrome 3 (EEC3), Hay-Wells syndrome (HWS), limb-mammary syndrome, Rapp-Hodgkin syndrome, and split-hand/foot malformation, collectively known as TP63-related disorders.

GENES TESTED:

TP63

2 genes

Invitae van der Woude Syndrome Panel

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Genetic testing for two genes that are associated with van der Woude syndrome (VDWS), which is characterized by cleft lip or cleft palate and by bilateral paramedian lower lip pits.

GENES TESTED:

GRHL3 IRF6

Clinical Area: Hereditary Cancer

48 genes

Invitae Pediatric Solid Tumors Panel

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Genetic testing for 48 genes that are associated with a hereditary predisposition to the development of pediatric solid tumors.

GENES TESTED:

ALK APC AXIN2 BAP1 BLM BMPR1A CDC73 CDKN1C DICER1 DIS3L2 EPCAM FH GPC3 HRAS MAX MEN1 MLH1 MSH2 MSH6 NBN NF1 NF2 PHOX2B PMS2 PRKAR1A PTCH1 PTEN RB1 RECQL4 RET SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 SMARCE1 STK11 SUFU TMEM127 TP53 TSC1 TSC2 VHL WRN WT1

16 genes

Invitae Pediatric Hematologic Malignancies Panel

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Genetic testing for 16 genes that are associated with predisposition to childhood-onset hematologic malignancies.

GENES TESTED:

ATM BLM CEBPA EPCAM GATA2 HRAS MLH1 MSH2 MSH6 NBN NF1 PMS2 RUNX1 TERC TERT TP53

up to 32 genes

Invitae Pediatric Nervous System/Brain Tumors Panel

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Genetic testing for up to 32 genes that are associated with a hereditary predisposition to developing pediatric cancers of the central and peripheral nervous system.

GENES TESTED:

Primary Panel:
ALK APC DICER1 EPCAM HRAS MEN1 MLH1 MSH2 MSH6 NF1 NF2 PHOX2B PMS2 PRKAR1A PTCH1 PTEN RB1 SMARCB1 SMARCE1 SUFU TP53 TSC1 TSC2 VHL

Add-on Hereditary Paraganglioma-Pheochromocytoma Genes:
MAX RET SDHA SDHAF2 SDHB SDHC SDHD TMEM127

Head-and-neck paragangliomas are neuroendocrine tumors that may occur in families with hereditary paraganglioma pheochromocytoma (PGL/PCC) syndrome. Clinicians can choose to include eight genes that are associated with PGL/PCC at no additional charge.

To add genes to your cart, first select a clinical area to see available combinations

  • Clinical Area: Pediatric and Rare Disease
  • Clinical Area: Hereditary Cancer

Gene
A
Synonym(s): CPAMD9

The A2ML1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (OMIM# 610627; PMID: 24939586).

Synonym(s): GABA-AT; GABAT; NPD009

The ABAT gene is associated with autosomal recessive GABA-transaminase (GABA-T) deficiency (PMID: 20052547).

Synonym(s): BRWS1; PS1TP5BP1

The ACTB gene is associated with autosomal dominant Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 340943). Additionally, the ACTB gene has preliminary evidence supporting a correlation with juvenile-onset dystonia (PMID: 25052316, 16685646).

Synonym(s): ACTC; ASD5; CMD1R; CMH11; LVNC4

The ACTC1 gene is associated with autosomal dominant atrial septal defects (ASD) (MedGen UID: 412580), hypertrophic cardiomyopathy (HCM) (MedGen UID: 436962), dilated cardiomyopathy (DCM) (MedGen UID: 462031) and left ventricular noncompaction (LVNC) (MedGen UID: 349005).

Synonym(s): ACT; ACTG; BRWS2; DFNA20; DFNA26; HEL-176

The ACTG1 gene is associated with autosomal dominant deafness (MedGen UID: 346852) and Baraitser-Winter syndrome (MedGen UID: 482865).

Synonym(s): ActR-IIB; ACTRIIB; HTX4

The ACVR2B gene is associated with autosomal dominant heterotaxy, type 4 (MedGen UID: 462407).

Synonym(s): AMPS; ASASE; ASL

The ADSL gene is associated with autosomal recessive adenylosuccinate lyase (ADSL) deficiency (MedGen UID: 78641).

Synonym(s): AF5Q31; CHOPS; MCEF

The AFF4 gene is associated with autosomal dominant CHOPS syndrome (cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia) (MedGen UID: 833892).

AGK
Synonym(s): CATC5; CTRCT38; MTDPS10; MULK

The AGK gene is associated with autosomal recessive Sengers syndrome (MedGen UID:395228). Additionally, the AGK gene has limited evidence supporting a correlation with autosomal recessive non syndromic congenital cataracts (PMID: 22415731)

Synonym(s): AHI-1; dJ71N10.1; JBTS3; Jouberin; ORF1

The AHI1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 798322).

Synonym(s): AIPL2; LCA4

The AIPL1 gene is associated with autosomal recessive Leber congenital amaurosis 4 (LCA4) (MedGen UID: 346808). Additionally, the AIPL1 gene has preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 20702822, 21474771) and cone-rod dystrophy (PMID: 26103963, 10873396).

Synonym(s): AKT; CWS6; PKB; PKB-ALPHA; PRKBA; RAC; RAC-ALPHA

The AKT1 gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288). Additionally, the AKT1 gene is associated with Proteus syndrome where the pathogenic variant is constitutionally mosaic and not inherited (MedGen UID: 39008).

Synonym(s): HIHGHH; PKBB; PKBBETA; PRKBB; RAC-BETA

The AKT2 gene is associated with autosomal dominant hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) (MedGen UID: 343429). Additionally, the AKT2 gene has preliminary evidence supporting a correlation with autosomal dominant diabetes mellitus, type II (MedGen UID: 41523).

Synonym(s): MPPH; MPPH2; PKB-GAMMA; PKBG; PRKBG; RAC-gamma; RAC-PK-gamma; STK-2

The AKT3 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) (MedGen UID: 799862).

Synonym(s): ALDH1A6; ALDH6; MCOP8; RALDH3

The ALDH1A3 gene is associated with autosomal recessive isolated microphthalmia-8 (MCOP8) (MedGen UID: 767438).

Synonym(s): Mitochondrial succinate semialdehyde dehydrogenase; NAD(+)-dependent succinic semialdehyde dehydrogenase; SSADH; SSDH

The ALDH5A1 gene is associated with autosomal recessive succinic semialdehyde dehydrogenase (SSADH) deficiency (MedGen UID: 124340).

Synonym(s): ATQ1; EPD; PDE

The ALDH7A1 gene is associated with autosomal recessive pyridoxine-dependent epilepsy (MedGen UID: 340341).

Synonym(s): CDG1S; CXorf45; EIEE36; GLT28D1; MDS031; TDRD13; YGL047W

The ALG13 gene is associated with the X-linked congenital disorder of glycosylation ALG13-CDG (CDG-Is) (MedGen UID 763818).

ALK
Synonym(s): CD246; NBLST3

The ALK gene is associated with autosomal dominant neuroblastoma susceptibility (MedGen UID: 414083).

Synonym(s): ALSS

The ALMS1 gene is associated with autosomal recessive Alstrom syndrome (MedGen UID: 78675).

AMT
Synonym(s): GCE; GCST; GCVT; NKH

The AMT gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

Synonym(s): ANCO-1; ANCO1; LZ16; T13

The ANKRD11 gene is associated with autosomal dominant KBG syndrome (MedGen UID: 66317).

Synonym(s): ANKRD14; NPHP16; PKDR1; SAMD6

The ANKS6 gene is associated with autosomal recessive nephronophthisis 16 (NPHP16) (MedGen UID: 815650).

Synonym(s): ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS; WFDC19

The ANOS1 gene is associated with X-linked Kallman syndrome (MedGen UID: 295872).

APC
Synonym(s): BTPS2; DP2; DP2.5; DP3; GS; PPP1R46

The APC gene is associated with autosomal dominant familial adenomatous polyposis (FAP) (MedGen UID: 398651) and attenuated FAP (AFAP) (MedGen UID: 436213).

AR
Synonym(s): AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4; SBMA; SMAX1; TFM

The AR gene is associated with X-linked androgen insensitivity syndrome (AIS) (MedGen UID: 21102) and Kennedy spinal and bulbar muscular atrophy (MedGen UID: 333282). Kennedy SBMA disease-related polyglutamine repeat expansions are not currently analyzed by this assay.

Synonym(s): ARGEF15; E5; Ephexin5; Vsm-RhoGEF

The ARHGEF15 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23647072).

Synonym(s): COLLYBISTIN; EIEE8; HPEM-2; PEM-2; PEM2

The ARHGEF9 gene is associated with X-linked recessive hereditary hyperekplexia / early infantile epileptic encephalopathy 8 (EIEE8) (MedGen UID: 375581).

Synonym(s): ARL2L1; JBTS8

The ARL13B gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 436772).

Synonym(s): BBS3; RP55

The ARL6 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and retinitis pigmentosa (MedGen UID: 20551).

Synonym(s): CILD23

The ARMC4 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815878).

Synonym(s): ASE; CDPX; CDPX1; CDPXR

The ARSE gene is associated with X-linked recessive chondrodysplasia punctata (MedGen UID: 337102)

ARX
Synonym(s): CT121; EIEE1; ISSX; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS

The ARX gene is associated with X-linked recessive early infantile epileptic encephalopathy (MedGen UID: 483052), or West syndrome, and X-linked lissencephaly with ambiguous genitalia (XLAG) (MedGen UID: 375832).

ATM
Synonym(s): AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1

The ATM gene is associated with an increased risk for autosomal dominant breast and pancreatic cancer (PMID: 15928302, 15942625, 16998505, 22585167, 26483394, 26662178). There is also preliminary evidence supporting a correlation with autosomal dominant colorectal, prostate, and possibly other cancers (PMID: 15928302, 15942625, 26662178). Additionally, the ATM gene is associated with autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439).

Synonym(s): CLN12; HSA9947; KRPPD; PARK9

The ATP13A2 gene is associated with autosomal recessive Kufor-Rakeb syndrome (KRS) (MedGen UID: 338281), also known as Parkinson’s disease 9 (PARK9). Additionally, the ATP13A2 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (MedGen UID:909889) and neuronal ceroid lipofuscinoses (PMID: 22388936).

Synonym(s): FHM2; MHP2

The ATP1A2 gene is associated with autosomal dominant familial hemiplegic migraine (MedGen UID: 355962).

Synonym(s): DYT12

The ATP1A3 gene is associated with autosomal dominant dystonia 12 (DYT12) (MedGen UID: 358384), cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome (MedGen UID: 318633), and alternating hemiplegia of childhood (AHC) (MedGen UID: 766702).

Synonym(s): APT6M8-9; ATP6IP2; ATP6M8-9; ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR; XMRE; XPDS

The ATP6AP2 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant X-linked intellectual disability with epilepsy (PMID: 15746149).

Synonym(s): ATR2; JMS; MRX52; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX

The ATRX gene is associated with Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome (MedGen UID: 337145).

Synonym(s): AXIL; ODCRCS

The AXIN2 gene is associated with autosomal dominant oligodontia-colorectal cancer syndrome (MedGen UID: 324868).

B
Synonym(s): B9; EPPB9; MKS9; MKSR1

The B9D1 gene is associated with autosomal recessive Meckel syndrome (MedGen UID: 481785).

Synonym(s): ICIS-1; MKS10; MKSR2

The B9D2 gene is associated with autosomal recessive Meckel syndrome (MedGen UID: 481666).

Synonym(s): HUCEP-13; hucep-6; UCHL2

The BAP1 gene is associated with autosomal dominant BAP1 tumor predisposition syndrome (MedGen UID: 482122).

Synonym(s): BBS2L2

The BBS1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422452).

Synonym(s): C12orf58

The BBS10 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347909).

Synonym(s): C4orf24

The BBS12 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347910).

Synonym(s): BBS; RP74

The BBS2 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422453).

The BBS4 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019). Additionally, the BBS4 gene has preliminary evidence supporting a correlation with autosomal recessive Leber congenital amaurosis (LCA) (PMID: 22219648).

The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 431047).

Synonym(s): BBS2L1

The BBS7 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347180).

Synonym(s): B1; C18; D1; PTHB1

The BBS9 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347182).

Synonym(s): ANOP2; MAA2; MCOPS2

The BCOR gene is associated with X-linked dominant oculofaciocardiodental (OFCD) syndrome (MedGen UID: 337547). Additionally, the BCOR gene has preliminary evidence supporting a correlation with X-linked recessive Lenz microphthalmia syndrome (PubMed: 26694549).

Synonym(s): CP115; CP94; CTRCT33; LIFL-H

The BFSP1 gene is associated with autosomal dominant congenital cataracts (PMID: 24379646) and autosomal recessive congenital cataracts (MedGen UID: 370714).

Synonym(s): CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN

The BFSP2 gene is associated with autosmal recessive congenital cataracts (PMID: 21836522, 22935719).

BLM
Synonym(s): BS; RECQ2; RECQL2; RECQL3

The BLM gene is associated with autosomal recessive Bloom syndrome (MedGen UID: 2685). Additionally, the BLM gene has preliminary evidence supporting a correlation with autosomal dominant colorectal cancer in individuals who carry a single pathogenic variant (PMID: 12242432, 26358404, 12702560, 18210922).

Synonym(s): BMP2B; BMP2B1; MCOPS6; OFC11; ZYME

The BMP4 gene is associated with autosomal dominant microphthalmia 6 (MCOPS6) (MedGen UID: 468558). Additionally, the BMP4 gene has preliminary evidence supporting a correlation with autosomal dominant orofacial clefting (PMID: 19249007, 21340693).

Synonym(s): 10q23del; ACVRLK3; ALK3; CD292; SKR5

The BMPR1A gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518).

Synonym(s): B-raf; B-RAF1; BRAF1; NS7; RAFB1

The BRAF gene is associated with the autosomal dominant Noonan syndrome (MedGen UID: 462320) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 266149).

Synonym(s): BAAT1; C7orf27; RMFSL

The BRAT1 gene is associated with autosomal recessive neonatal-lethal rigidity and multifocal seizure syndrome (RFMSL) (MedGen UID: 482659).

C
Synonym(s): C10; GRCC10

The C12orf57 gene is associated with autosomal recessive Temtamy syndrome (MedGen UID: 347474).

Synonym(s): NBIA3; NBIA4; SPG43

The C19ORF12 gene is associated with autosomal recessive neurodegeneration with brain iron accumulation 4(NBIA4) (MedGen UID: 482001). Additionally, the C19ORF12 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 43 (SPG43) (MedGen UID: 760531).

Synonym(s): C21orf48; CILD26; FBB18; Kur

The C21orf59 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816014).

Synonym(s): Hug; JBTS17; OFD6

The C5orf42 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 766178). Additionally, the C5orf42 gene has preliminary evidence supporting a correlation with autosomal recessive oral-facial-digital syndrome, type VI (PMID: 24178751).

Synonym(s): APCA; BI; CACNL1A4; CAV2.1; EA2; FHM; HPCA; MHP; MHP1; SCA6

The CACNA1A gene is associated with CACNA1A-related conditions, which include autosomal dominant episodic ataxia type 2 (EA2) (MedGen UID: 314039), familial hemiplegic migraine type 1 (FHM1) (MedGen UID: 331389), and spinocerebellar ataxia 6 (SCA6) (MedGen UID: 148458).

Synonym(s): CACNA1HB; Cav3.2; ECA6; EIG6; HALD4

The CACNA1H gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant generalized epilepsy syndromes (PMID: 12891677, 15048902 , 17696120).

Synonym(s): CACNA2D

The CACNA2D2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (PMID: 24358150, 23339110).

Synonym(s): CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6

The CACNB4 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 10762541).

Synonym(s): COXPD27; cysRS

The CARS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency 27 (PMID: 25787132, 25361775).

Synonym(s): CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8

The CASK gene is associated with X-linked intellectual disability (ID) (MedGen UID: 411367) and intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) (MedGen UID: 437070).

Synonym(s): CAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1

The CASR gene is associated with autosomal dominant familial isolated hyperparathyroidism (FIHP) (PMID: 14985373), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), benign familial hypocalciuric hypercalcemia (BFHH) (MedGen UID: 369200), and autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624).

CBL
Synonym(s): C-CBL; CBL2; FRA11B; NSLL; RNF55

The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID 462153).

Synonym(s): JBTS9; MKS6

The CC2D2A gene is associated with autosomal recessive ciliopathies including Joubert syndrome (MedGen UID: 382940), Joubert syndrome with congenital hepatic fibrosis (COACH syndrome; MedGen UID: 387879), and Meckel-Gruber syndrome (MedGen UID: 382942).

Synonym(s): CILD17; PR46b; SMH

The CCDC103 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 762261).

Synonym(s): CILD20

The CCDC114 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 761920).

Synonym(s): CILD30

The CCDC151 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 807540).

Synonym(s): CILD14; FAP59

The CCDC39 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 462486).

Synonym(s): CILD15; FAP172

The CCDC40 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 462487).

Synonym(s): CFAP250; CILD27; DRC2; FAP250; NYD-SP28

The CCDC65 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816031).

Synonym(s): C7orf22; OSM; PP10187

The CCM2 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 400438).

Synonym(s): CCNU; CILD29; UDG2

The CCNO gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID 786447).

Synonym(s): C1orf28; FIHP; HPTJT; HRPT1; HRPT2; HYX

The CDC73 gene is associated with autosomal dominant hyperparathyroidism-jaw tumor syndrome (HPT-JT), parathyroid carcinoma, and familial isolated hyperparathyroidism (FIH) (MedGen UID: 310065, 146361, 333554), collectively referred to as CDC73-related conditions.

Synonym(s): CFAP247; EIEE2; ISSX; STK9

The CDKL5 gene is associated with X-linked dominant early infantile epileptic encephalopathy/West syndrome (MedGen UID: 326463), atypical Rett syndrome (PMID: 16015284, 15689447), and Angelman-like syndrome (MedGen UID: 472054).

Synonym(s): BWCR; BWS; KIP2; p57; p57Kip2; WBS

The CDKN1C gene is associated with autosomal dominant Beckwith-Wiedemann syndrome (MedGen UID: 2562). Additionally, the CDKN1C gene has preliminary evidence supporting a correlation with autosomal dominant intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGe syndrome) (MedGen UID: 337364).

Synonym(s): CDO; CDON1; HPE11; ORCAM

The CDON gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant holoprosencephaly (HPE) (PMID: 21802063).

Synonym(s): C/EBP-alpha; CEBP

The CEBPA gene is associated with autosomal dominant familial acute myeloid leukemia (MedGen UID: 9730).

Synonym(s): CFAP256; GlyBP; JBTS25; KIAA0562; ROC22

The CEP104 gene is associated with autosomal recessive CEP104-related Joubert syndrome (MedGen UID: 852392).

Synonym(s): CCDC100; SRTD13

The CEP120 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) (PMID: 25361962; MedGen UID: 833584).

Synonym(s): NPHP15

The CEP164 gene is associated with autosomal recessive nephronophthisis 15 (NPHP15) (MedGen UID: 762112)

Synonym(s): 3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4; NPHP6; POC3; rd16; SLSN6

The CEP290 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 346672), Joubert syndrome (MedGen UID: 347545) and Bardet-Biedl syndrome (MedGen UID: 393033).

Synonym(s): JBTS15; TSGA14

The CEP41 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482527).

Synonym(s): CCDC41; NPHP18; NY-REN-58

The CEP83 gene is associated with autosomal recessive nephronophthisis 18 (NPHP18) (MedGen UID: 786419).

Synonym(s): EPM8; LAG1; LASS1; UOG1

The CERS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive progressive myoclonic epilepsy 8 (EPM8) (PMID: 24782409).

Synonym(s): WDR16; WDRPUH

The CFAP52 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive CFAP52-related heterotaxy (PMID: 25469542).

Synonym(s): CCDC11; HTX6

The CFAP53 gene is associated with autosomal recessive heterotaxy (MedGen UID: 766590).

Synonym(s): ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR

The CFTR gene is associated with autosomal recessive cystic fibrosis (MedGen UID: 41393) and congenital bilateral absence of the vas deferens (CBAVD) (MedGen UID: 98021). Additionally, the CFTR gene is associated with an increased risk for chronic pancreatitis (PMID: 17003641, 11729110).

Synonym(s): EEOC

The CHD2 gene is associated with autosomal dominant childhood-onset epileptic encephalopathy (MedGen UID: 815608).

Synonym(s): CRG; HH5; IS3; KAL5

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567).

CHM
Synonym(s): A1L4D2; AK299323; DXS540; GGTA; HSD-32; O43732; P24386; Rab Escort Protein 1; Rab Geranylgeranyltransferase Component A; Rab Proteins Geranylgeranyltransferase Component A 1; RAE1_HUMAN; REP-1; REP1; TCD

The CHM gene is associated with X-linked choroideremia (MedGen UID: 944).

Synonym(s): C20orf178; CHMP4A; CTPP3; CTRCT31; dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B

The CHMP4B gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant Congenital Cataracts (PMID:10682967, 10909854).

The CHRNA2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 332082).

Synonym(s): BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4

The CHRNA4 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 324932).

Synonym(s): EFNL3; nAChRB2

The CHRNB2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 344263).

Synonym(s): ClC-4; ClC-4A; CLC4; MRX15; MRX49

The CLCN4 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with X-linked early infantile epileptic encephalopathy (PMID: 23647072) and X-linked intellectual disability (PMID: 25644381).

Synonym(s): CLN2; GIG1; LPIC; SCAR7; TPP-1

The CLN2 gene (also known as TPP1) is associated with autosomal recessive neuronal ceroid lipofuscinosis type 2 (MedGen UID: 406281).

Synonym(s): BTN1; BTS; JNCL

The CLN3 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 3 (CLN3) (MedGen UID: 155549).

Synonym(s): NCL

The CLN5 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 5 (CLN5) (MedGen UID: 376792).

Synonym(s): CLN4A; HsT18960; nclf

The CLN6 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 6 (CLN6) (MedGen UID: 356494).

Synonym(s): C8orf61; EPMR

The CLN8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 8 (CLN8) (MedGen UID: 374004).

Synonym(s): AXT; FAME5; TAG-1; TAX; TAX1

The CNTN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive epilepsy (PMID: 23518707).

Synonym(s): AUTS15; CASPR2; CDFE; NRXN4; PTHSL1

The CNTNAP2 gene is associated with autosomal recessive intellectual disability disorders: cortical dysplasia-focal epilepsy syndrome (CDFES) (MedGen UID: 355859) and Pitt-Hopkins-like syndrome (PMID: 19896112).

Synonym(s): DPCK; NBIA6; NBP; pOV-2; PPAT; UKR1

The COASY gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation 6 (NBIA6) (MedGen UID: 816560).

Synonym(s): EDSC; OI1; OI2; OI3; OI4

The COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662), and Caffey disease (PMID: 24389367).

Synonym(s): OI4

The COL1A2 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246) and Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662). The COL1A2 gene is also associated with autosomal recessive Ehlers-Danlos syndrome, cardiac valvular form (MedGen UID: 347359).

Synonym(s): CGI-92; COQ10D7

The COQ4 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 833081). Additionally, the COQ4 gene has preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy (EIEE) (PMID: 26795593).

CP
Synonym(s): CP-2

The CP gene is associated with autosomal recessive ceruloplasmin deficiency (Med Gen UID: 168057).

Synonym(s): CPAH; ETL5; FEB11

The CPA6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant familial temporal lobe epilepsy 5 (PMID: 21922598, 25875328, 26648591, 23105115) and autosomal recessive familial febrile seizures 11 (PMID: 21922598, 23105115).

Synonym(s): LCA8; RP12

The CRB1 gene is associated with autosomal recessive Leber congenital amaurosis 8 (MedGen UID: 462552) and retinitis pigmentosa 12 (MedGen UID: 374019).

Synonym(s): CBP; KAT3A; RSTS

The CREBBP gene is associated with autosomal dominant Rubinstein-Taybi syndrome 1 (RSTS1) (MedGen UID: 48517) and is commonly deleted in the recurrent 16p13.3 microdeletion syndrome (OMIM: 610543), a severe form of RSTS resulting from a contiguous gene deletion involving CREBBP as well as other neighboring genes.

Synonym(s): AVSD2; CIRRIN

The CRELD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrioventricular septal defects (PMID: 15857420, 21080147).

Synonym(s): CASP; LEPREL3; OI7; P3H5

The CRTAP gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 343981).

CRX
Synonym(s): CORD2; CRD; LCA7; OTX3

The CRX gene is associated with autosomal dominant Leber congenital amaurosis 7 (MedGen UID: 462542) and cone-rod dystrophy 2 (MedGen UID: 441877).

Synonym(s): CRYA1; CTRCT9; HSPB4

The CRYAA gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID:347693)

Synonym(s): CMD1II; CRYA2; CTPP2; CTRCT16; HEL-S-101; HSPB5; MFM2

The CRYAB gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 767563) and cataracts (MedGen UID: 462415). It is also associated with autosomal dominant and recessive myofibrillar myopathy 2 (MFM2) (MedGen UID: 324735).

Synonym(s): CRYB1; CTRCT10

The CRYBA1 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 318817).

Synonym(s): CTRCT23; CYRBA4; MCOPCT4

The CRYBA4 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant Congenital Cataracts (PMID: 16960806)

Synonym(s): CATCN3; CTRCT17

The CRYBB1 gene is associated with autosomal dominant congenital cataracts (PMID: 18432316) and autosomal recessive congenital cataracts (MedGen UID: 370592).

Synonym(s): CCA2; CRYB2; CRYB2A; CTRCT3; D22S665

The CRYBB2 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 321901).

Synonym(s): CATCN2; CRYB3; CTRCT22

The CRYBB3 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 341862). Additionally, the CRYBB3 gene has preliminary evidence supporting a correlation with autosomal dominant congenital cataracts (PMID: 23508780).

Synonym(s): CRYG2; CTRCT39

The CRYGB gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant Congenital Cataracts (MedGen UID: 815130)

Synonym(s): CCL; CRYG3; CTRCT2

The CRYGC gene is associated with autosomal dominant congenital cataracts (MedGen UID: 343810).

Synonym(s): CACA; CCA3; CCP; cry-g-D; CRYG4; CTRCT4; PCC

The CRYGD gene is associated with autosomal dominant congenital cataracts (MedGen UID: 348463). Additionally, the CRYGD gene has limited evidence supporting a correlation with congenital cataracts in association with microcornea (CCMC) (PMID: 17724170).

Synonym(s): CRYG8; CTRCT20

The CRYGS gene is associated with autosomal dominant congenital cataracts (MedGen UID: 101117).

Synonym(s): CSPP; JBTS21

The CSPP1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 816542). A minority of individuals affected by CSPP1-related Joubert syndrome have also been reported with Jeune asphyxiating thoracic dystrophy (PMID: 24360808).

Synonym(s): CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD

The CSTB gene is associated with autosomal recessive Unverricht-Lundborg syndrome (MedGen UID: 155923), a subtype of progressive myoclonic epilepsy.

Synonym(s): CCFDN; FCP1

The CTDP1 gene is associated with autosomal recessive congenital cataracts with facial dysmorphism and neuropathy (CCFDN) (Medgen UID: 346973).

Synonym(s): CLCR; ELA4

The CTRC gene is associated with an increased risk for chronic pancreatitis (MedGen UID: 116056).

Synonym(s): CLN10; CPSD; HEL-S-130P

The CTSD gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 10 (CLN10) (MedGen UID: 350481).

Synonym(s): CUL-4B; MRXHF2; MRXS15; MRXSC; SFM2

The CUL4B gene is associated with X-linked recessive Cabezas type intellectual disability syndrome (MedGen UID: 337334).

Synonym(s): CP1B; CYPIB1; GLC3A; P4501B1

The CYP1B1 gene is associated with autosomal recessive primary congenital glaucoma 3A (GLC3A), and juvenile- and adult-onset primary open-angle glaucoma (POAG) (MedGen UID: 42532). CYP1B1 is also associated with an increased risk for glaucoma that may be seen in combination with Peters anomaly (MedGen UID: 91031).

D
Synonym(s): C2orf37

The DCAF17 gene is associated with autosomal recessive Woodhouse-Sakati syndrome (WSS) (MedGen UID: 83337).

Synonym(s): DCDC2A; DFNB66; NPHP19; RU2; RU2S

The DCDC2 gene is associated with autosomal recessive nephronophthisis 19 (NPHP19) (MedGen UID: 830773). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 25601850).

Synonym(s): DEP.5; FFEVF

The DEPDC5 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 348951) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (MedGEN UID: 432738).

Synonym(s): SLOS

The DHCR7 gene is associated with autosomal recessive Smith-Lemli-Opitz syndrome (SLOS) (Medgen UID: 61231).

DHH
Synonym(s): GDXYM; HHG-3; SRXY7

The DHH gene is associated with autosomal recessive gonadal dysgenesis (MedGen UID: 383876).

Synonym(s): DFNA1; DIA1; DRF1; hDIA1; LFHL1; SCBMS

The DIAPH1 gene is associated with autosomal recessive seizures, cortical blindness, and microcephaly syndrome (SCBMS) (MedGen UID: 851846). Additionally, the DIAPH1 gene has preliminary evidence supporting a correlation with autosomal dominant deafness 1 (DFNA1) (PMID: 9360932, 25342930, 22938506; MedGen UID: 343767).

Synonym(s): DCR1; Dicer; Dicer1e; HERNA; K12H4.8-LIKE; MNG1; RMSE2

The DICER1 gene is associated with autosomal dominant DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome (MedGen UID: 449020).

Synonym(s): FAM6A; hDIS3L2; PRLMNS

The DIS3L2 gene is associated with autosomal recessive Perlman syndrome (MedGen UID: 162909). Additionally, the DIS3L2 gene has preliminary evidence supporting a correlation with autosomal dominant non-syndromic Wilms tumor (PMID: 25670083).

Synonym(s): CILD13; LRRC50; ODA7

The DNAAF1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 413399).

Synonym(s): C14orf104; CILD10; KTU; PF13

The DNAAF2 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 382707).

Synonym(s): C19orf51; CILD2; DAB1; PCD; PF22

The DNAAF3 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 338258).

Synonym(s): CILD18; HEATR2

The DNAAF5 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 762331).

Synonym(s): DNAHC1; HDHC7; HL-11; HL11; HSRF-1; XLHSRF-1

The DNAH1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive primary ciliary dyskinesia (PMID: 25927852).

Synonym(s): CILD7; DNAHBL; DNAHC11; DNHBL; DPL11

The DNAH11 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 394834).

Synonym(s): CILD3; DNAHC5; HL1; KTGNR; PCD

The DNAH5 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 325210).

Synonym(s): ATPase; hdhc9

The DNAH8 gene is associated with autosomal recessive primary ciliary dyskinesia (OMIM# 603337; PMID: 24307375).

Synonym(s): CILD1; DIC1; ICS1; PCD

The DNAI1 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD), or Kartagener syndrome (MedGen UID: 9615).

Synonym(s): CILD9; DIC2

The DNAI2 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 390990).

Synonym(s): CLN4; CLN4B; CSP; DNAJC5A; mir-941-2; mir-941-3; mir-941-4; mir-941-5; NCL

The DNAJC5 gene is associated with autosomal dominant neuronal ceroid lipofuscinosis type 4B (CLN4B) (MedGen UID: 320287).

Synonym(s): C14orf168; CILD16

The DNAL1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 462810).

Synonym(s): DNM; EIEE31

The DNM1 gene is associated with autosomal dominant early infantile epileptic encephalopathy 31 (EIEE31) (MedGen UID: 833832).

Synonym(s): DNMT3A2; M.HsaIIIA; TBRS

The DNMT3A gene is associated with autosomal dominant Tatton-Brown-Rahman syndrome (TBRS) (MedGen UID: 786449).

Synonym(s): EIEE23; ZIR2

The DOCK7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy 23 (EIEE23) (PMID: 24814191).

Synonym(s): C2orf39; CCDC164; CILD21

The DRC1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815417).

Synonym(s): CMT2O; DHC1; DHC1a; DNCH1; Dnchc1; DNCL; DNECL; DYHC; HL-3; p22; SMALED1

The DYNC1H1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2O (CMT2O) (MedGen UID: 481850), lower extremity predominant spinal muscular atrophy 1 (SMALED1) (MedGen UID: 322470) and intellectual disability (MedGen UID: 482832).

Synonym(s): ATD3; DHC1b; DHC2; DNCH2; DYH1B; hdhc11; SRPS2B; SRTD3

The DYNC2H1 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (MedGen UID: 462535).

Synonym(s): DYRK; DYRK1; HP86; MNB; MNBH; MRD7

The DYRK1A gene is associated with autosomal dominant intellectual disability 7 (IDD7) (MedGen UID: 481469).

Synonym(s): CILD25; DNAAF4; DYX1; DYXC1; EKN1; RD

The DYX1C1 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 815971).

E
EDA
Synonym(s): ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2; EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED

The EDA gene is associated with X-linked hypohidrotic ectodermal dysplasia (MedGen UID: 57890).

Synonym(s): DL; ECTD10A; ECTD10B; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3; HRM1

The EDAR gene is associated with autosomal recessive hypohidrotic ectodermal dysplasia (HED) (MedGen UID: 96067). Additionally, the EDAR gene has preliminary evidence supporting a correlation with autosomal dominant hypohidrotic ectodermal dysplasia (MedGen UID: 314095; PMID: 10431241, 20979233).

Synonym(s): ECTD11A; ECTD11B; ED3; EDA3

The EDARADD gene is associated with autosomal dominant and autosomal recessive hypohidrotic ectodermal dysplasia (MedGen UID: 314095, 96067).

EED
Synonym(s): HEED; WAIT1

The EED gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal dominant Weaver-like overgrowth syndrome (PMID: 25787343).

Synonym(s): EEF1AL; EF-1-alpha-2; EF1A; EIEE33; HS1; MRD38; STN; STNL

The EEF1A2 gene is associated with autosomal dominant early infantile epileptic encephalopathy 33 (EIEE33) (MedGen UID: 834052).

Synonym(s): dJ304B14.2; EJM1

The EFHC1 gene is associated with autosomal dominant juvenile myoclonic epilepsy (JME) (MedGen UID: 342587) and juvenile absence epilepsy (JAE) (MedGen UID: 4989).

Synonym(s): bA188C12.1; Eu-HMTase1; EUHMTASE1; FP13812; GLP; GLP1; KMT1D

The EHMT1 gene is associated with autosomal dominant Kleefstra syndrome (MedGen UID: 208639).

ELN
Synonym(s): SVAS; WBS; WS

The ELN gene is associated with autosomal dominant supravalvar aortic stenosis (SVAS) (MedGen UID: 2001), autosomal dominant cutis laxa (MedGen UID: 120630), and is one of the genes commonly deleted in the microdeletion associated with Williams syndrome (WS) (MedGen UID: 59799).

Synonym(s): KAT3B; P300; RSTS2

The EP300 gene is associated with autosomal dominant Rubinstein-Taybi syndrome (MedGen UID: 462291). Additionally, the EP300 gene has preliminary evidence supporting a correlation with autosomal dominant Cornelia de Lange syndrome (PMID: 24352918).

Synonym(s): DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8; KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1

Inactivation of MSH2 through deletions at the 3’ end of the EPCAM gene are known to cause autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer, or HNPCC) (MedGen UID: 40399; PMID: 23938213, 23264089, 19455606). EPCAM is also associated with autosomal recessive congenital tufting enteropathy (CTE) (MedGen UID: 413031; PMID: 18572020, 21315192).

Synonym(s): ARCC2; CTPA; CTPP1; CTRCT6; ECK

The EPHA2 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 396229).

Synonym(s): EPM2; MELF

The EPM2A gene is associated with autosomal recessive progressive myoclonus epilepsy, Lafora type (MedGen UID: 155631).

ERF
Synonym(s): CRS4; PE-2; PE2

The ERF gene is associated with autosomal dominant craniosynostosis (MedGen UID: 468569).

EVC
Synonym(s): DWF-1; EVC1; EVCL

The EVC gene is associated with autosomal recessive Ellis-van Creveld syndrome (EvC) (MedGen UID: 8584). Additionally, the EVC gene has preliminary evidence supporting a correlation with autosomal dominant Weyers acrodental dysostosis (WAD) (PMID: 10700184).

Synonym(s): LBN; WAD

The EVC2 gene is associated with autosomal recessive Ellis-van Creveld syndrome (EvC) (MedGen UID: 8584), and autosomal dominant Weyer acrofacial dysostosis (WAD) (MedGen UID: 141594).

Synonym(s): EXT; LGCR; LGS; TRPS2; TTV

The EXT1 gene is associated with autosomal dominant hereditary multiple osteochondromas (HMO) (MedGen UID: 4612).

Synonym(s): SOTV; SSMS

The EXT2 gene is associated with autosomal dominant hereditary multiple osteochondromatosis (HMO) (MedGen UID: 377018), previously called hereditary multiple exostoses.

Synonym(s): BOP; BOR; BOS1; OFC1

The EYA1 gene is associated with autosomal dominant forms of branchiootorenal spectrum disorders (Medgen UID: 351307, 82693) and Oto-facio-cervical (OFC) syndrome (Medgen UID: 322257).

Synonym(s): ENX-1; ENX1; EZH1; EZH2b; KMT6; KMT6A; WVS; WVS2

The EZH2 gene is associated with autosomal dominant Weaver syndrome (MedGen UID: 120511).

F
Synonym(s): FAAH; FAH1; FAXDC1; SCS7; SPG35

The FA2H gene is associated with autosomal recessive hereditary spastic paraplegia 35 (SPG35) (MedGen UID: 777150).

Synonym(s): DRCTNNB1A; HCC; HLD5; HYCC1

The FAM126A gene is associated with autosomal recessive hypomyelination and congenital cataracts (HCC) (MedGen UID: 382379).

Synonym(s): COXPD14; FARS1; HSPC320; PheRS; SPG77

The FARS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency (PMID: 22499341, 22833457, 25851414).

Synonym(s): FAS; OA-519; SDR27X1

The FASN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant epileptic encephalopathy (PMID: 25262651).

Synonym(s): bFGF-R-1; BFGFR; CD331; CEK; ECCL; FGFBR; FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM; OGD

The FGFR1 gene is associated with autosomal dominant isolated hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 289648). Other FGFR1-related conditions have been reported (OMIM: 136350).

Synonym(s): BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25

The FGFR2 gene is associated with autosomal dominant forms of craniosynostosis. This includes Apert syndrome (OMIM: 101200), Crouzon syndrome (MedGen UID: 1162), Jackson-Weiss syndrome (MedGen UID: 208653), Pfeiffer syndrome (MedGen UID: 350148), and Beare-Stevenson syndrome (OMIM: 123790).

Synonym(s): ACH; CD333; CEK2; HSFGFR3EX; JTK4

The FGFR3 gene is associated with autosomal dominant skeletal dysplasias (MedGen UID: 1289, 98376, 358383) and craniosynostosis (MedGen UID: 355217, 394201). Other FGFR3-related conditions have been reported (OMIM: 134934).

FH
Synonym(s): FMRD; HLRCC; LRCC; MCL; MCUL1

The FH gene is associated with autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC) (MedGen UID: 353771) and autosomal recessive fumarate hydratase deficiency (FHD) (MedGen UID: 87458). Additionally, the FH gene has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PMID: 24334767, 25004247).

Synonym(s): FLN; FLN1; OPD1; OPD2

The FLNA gene is associated with X-linked Ehlers-Danlos syndrome (EDS) with periventricular heterotopia (MedGen UID: 375610) and cardiac vavlular dysplasia (MedGen UID: 78083). Other FLNA-related conditions have also been reported (OMIM: 300017).

Synonym(s): FBP; FOLR

The FOLR1 gene is associated with autosomal recessive cerebral folate deficiency (MedGen UID: 442763).

Synonym(s): ARA; FKHL7; FREAC-3; FREAC3; IGDA; IHG1; IRID1; RIEG3

The FOXC1 gene is associated with autosomal dominant forms of Axenfeld-Rieger syndrome (Medgen UID: 394534).

Synonym(s): FKHL12; FREAC8

The FOXE3 gene is associated with autosomal recessive congenital primary aphakia [CPA] (MedGen UID: 339935) and autosomal dominant anterior segment mesenchymal dysgenesis [ASMD] (MedGen UID: 350766).

Synonym(s): BF1; BF2; FHKL3; FKH2; FKHL1; FKHL2; FKHL3; FKHL4; FOXG1A; FOXG1B; FOXG1C; HBF-1; HBF-2; HBF-3; HBF-G2; HBF2; HFK1; HFK2; HFK3; KHL2; QIN

The FOXG1 gene is associated with autosomal dominant congenital / atypical Rett syndrome (MedGen UID: 462055).

Synonym(s): FAST-1; FAST1

FOXH1 is associated with autosomal dominant heterotaxy, which includes congenital heart disease such as tetralogy of Fallot, as well as extracardiac laterality defects (PMID: 18538293). Additionally, the FOXH1 gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 18538293).

Synonym(s): C9orf4; CG-6; CG6; EIEE37

The FRRS1L gene is associated with autosomal recessive early infantile epileptic encephalopathy 37 (EIEE37) (MedGen UID: 881218).

FTL
Synonym(s): LFTD; NBIA3

The FTL gene is associated with autosomal dominant neurodegeneration with brain iron accumulation 3 (NBIA3) (MedGen UID: 381211) and hereditary hyperferritinemia-cataract syndrome (HHCS) (MedGen UID: 318812). Additionally, the FTL gene has preliminary evidence supporting a correlation with L-ferritin deficiency (PMID: 23940258, 15173247).

Synonym(s): FUCA

The FUCA1 gene is associated with autosomal recessive fucosidosis (MedGen UID: 5288)

Synonym(s): CATC2; CTRCT18; RUFY3; ZFYVE7

The FYCO1 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 351249)

G
Synonym(s): GABABR2; GPR51; GPRC3B; HG20; HRIHFB2099

The GABBR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant epileptic encephalopathy (PMID: 25262651).

Synonym(s): ECA4; EIEE19; EJM; EJM5

The GABRA1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 483052), childhood absence epilepsy (MedGen UID: 369671), and juvenile myoclonic epilepsy (MedGen UID: 442345).

The GABRA6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant childhood absence epilepsy (PMID: 19429026, 21930603).

The GABRB2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant intellectual disability and epilepsy (PMID: 25124326).

Synonym(s): ECA5

The GABRB3 gene is associated with autosomal dominant childhood absence epilepsy (CAE), a type of autosomal dominant idiopathic generalized epilepsy (MedGen UID: 393654).

Synonym(s): EIG10; EJM7; GEFSP5

The GABRD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to generalized epilepsy with febrile seizures plus, type 5 (GEFSP5), idiopathic generalized epilepsy 10 (EIG10), and susceptibility to juvenile myoclonic epilepsy 7 (EJM7) (PMID: 15115768, 16023832).

Synonym(s): CAE2; ECA2; GEFSP3

The GABRG2 gene is associated with autosomal dominant childhood absence epilepsy (CAE) (MedGen UID: 334707), generalized epilepsy with febrile seizures plus, and familial febrile seizures (MedGen UID: 370755).

GAL
Synonym(s): ETL8; GAL-GMAP; GALN; GLNN; GMAP

The GAL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with familial temporal lobe epilepsy 8 (ETL8) (PMID: 25691535).

Synonym(s): GALK; GK1; HEL-S-19

The GALK1 gene is associated with autosomal recessive galactokinase galactosemia (MedGen UID: 120614).

Synonym(s): CCDS2; HEL-S-20; PIG2; TP53I2

The GAMT gene is associated with autosomal recessive cerebral creatine deficiency syndrome (MedGen UID: 154356).

Synonym(s): CILD33; DRC4; GAS11

The GAS8 gene is associated with autosomal recessive primary ciliary dyskinesia 33 (PCD33) (MedGen UID: 852235).

Synonym(s): DCML; IMD21; MONOMAC; NFE1B

The GATA2 gene is associated with autosomal dominant GATA2 deficiency (MedGen UID: 481660), including Emberger syndrome (MedGen UID: 481294).

Synonym(s): ASD2; TACHD; TOF; VSD1

The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (MedGen UID: 21498), ventricular septal defects (MedGen UID: 482407), atrial septal defects (MedGen UID: 334249), atrioventricular septal defects (MedGen UID: 482411). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700).

The GATA6 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), atrial septal defects (MedGen UID: 482573), atrioventricular septal defects (MedGen UID: 482569), persistent truncus arteriosus (MIM: 217095), congenital heart defects with pancreatic agenesis (MIM: 600001), and dilated cardiomyopathy (DCM) (PMID: 25119427).

Synonym(s): AGAT; AT; CCDS3; Glycine Amidinotransferase; Glycine Amidinotransferase (L-Arginine:Glycine Amidinotransferase; L-Arginine:Glycine Amidinotransferase; Mitochondrial; Transamidinase

The GATM gene is associated with autosomal recessive cerebral creatine deficiency syndrome (MedGen UID: 436367).

Synonym(s): bA360O19.2; bA421M1.1; CCAT; CTRCT13; GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3

The GCNT2 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 811703).

Synonym(s): GCE; NKH

The GCSH gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

Synonym(s): DORV; DTGA3; RAI

The GDF1 gene is associated with autosomal recessive heterotaxy (PMID: 20413652). Additionally, the GDF gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 17924340).

Synonym(s): KFS3; MCOP7; MCOPCB6

The GDF3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with a skeletal disorder with ocular involvement (PMID: 19864492, 24859618).

Synonym(s): BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL; SGM1

The GDF6 gene is associated with autosomal dominant Klippel-Feil syndrome 1 (KFS1) (MedGen UID: 396196), autosomal recessive Leber congenital amaurosis 17 (LCA17) (MedGen UID: 811616), autosomal isolated microphthalmia 4 (MCOP4) (MedGen UID: 414346), and autosomal digenic microphthalmia with coloboma 6 (MCOPCB6) (MedGen UID: 462318).

Synonym(s): AVSD3; CMDR; CX43; EKVP; GJAL; HLHS1; HSS; ODDD; PPKCA

The GJA1 gene is associated with autosomal dominant forms of hypoplastic left heart syndrome (MedGen UID: 57746), atrioventricular septal defect (MedGen UID: 342900), oculodentodigital dysplasia (MedGen UID: 167236), and syndactyly type 3 (MedGen UID: 396117), as well as autosomal recessive craniometaphyseal dysplasia (MedGen UID: 387837).

Synonym(s): CTRCT14; CX46; CZP3

The GJA3 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 356152)

Synonym(s): CAE; CAE1; CTRCT1; CX50; CZP1; MP70

The GJA8 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 349374) and autosomal recessive congenital cataracts (PMID: 21720542).

Synonym(s): CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2

The GJB6 gene is associated with autosomal dominant non-syndromic deafness (DFNA3B) (MedGen UID: 436382), Clouston type ectodermal dysplasia 2 (ECTD2) (MedGen UID: 56416) and autosomal recessive non-syndromic deafness (DFNB1B) (MedGen UID: 436381). Additionally, the GJB6 gene has preliminary evidence supporting an association with digenic inheritance of deafness with the GJB2 gene (MedGen UID: 388720).

Synonym(s): GCE; GCSP; HYGN1

The GLDC gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

Synonym(s): CJS; HPE9; PHS2; THP1; THP2

The GLI2 gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 324369) and pituitary abnormalities with or without additional features (MedGen UID: 786407).

Synonym(s): ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV

The GLI3 gene is associated with autosomal dominant Greig cephalopolysyndactyly syndrome (MedGen UID: 120531), Pallister-Hall syndrome (MedGen UID: 120514) and polydactyly (MedGen UID: 67394, 357420).

Synonym(s): NKL; NPHP7

The GLIS2 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 369409).

Synonym(s): HKPX1; STHE

The GLRA1 gene is associated with autosomal dominant and autosomal recessive hyperekplexia 1 (HKPX1) (MedGen UID: 332019).

Synonym(s): EIEE17; G-ALPHA-o; GNAO; HLA-DQB1

The GNAO1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 815936).

Synonym(s): Bos1; EPM6; GS27

The GOSR2 gene is associated with autosomal recessive progressive myoclonic epilepsy (MedGen UID: 481257).

Synonym(s): DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS; SGBS1

The GPC3 gene is associated with X-linked recessive Simpson-Golabi-Behmel syndrome (MedGen UID: 162917).

Synonym(s): GEPH; GPH; GPHRYN; HKPX1; MOCODC

The GPHN gene is associated with autosomal recessive molybdenum cofactor deficiency complementation group C (MOCODC) (MedGen UID: 340761). Additionally, the GPHN gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26613940, 24561070).

Synonym(s): SOM; TFCP2L4; VWS2

The GRHL3 gene is associated with autosomal dominant van der Woude syndrome (MedGen UID: 338272).

Synonym(s): GluN1; MRD8; NMD-R1; NMDA1; NMDAR1; NR1

The GRIN1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (PMID: 25864721, 23934111) and autosomal dominant intellectual disability (MedGen UID: 481912).

Synonym(s): EPND; FESD; GluN2A; LKS; NMDAR2A; NR2A

The GRIN2A gene is associated with autosomal dominant focal epilepsy with speech disorder, with or without intellectual disability (MedGen UID: 322043).

Synonym(s): EIEE27; GluN2B; hNR3; MRD6; NMDAR2B; NR2B

The GRIN2B gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 830511) and autosomal dominant intellectual disability (MedGen UID: 462761).

Synonym(s): CORD5; CORD6; CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; retGC; RETGC-1; ROS-GC1; ROSGC

The GUCY2D gene is associated with autosomal recessive Leber congenital amaurosis 1 (MedGen UID: 419026) and autosomal dominant cone rod dystrophy 6 (MedGen UID: 400963).

H
Synonym(s): bHLHa27; eHand; Hxt; Thing1

The HAND1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypoplastic left heart syndrome, atrioventricular septal defects and ventricular septal defects (PMID: 19586923, 18276607, 22032825).

Synonym(s): BCNG-1; BCNG1; EIEE24; HAC-2

The HCN1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 786443).

Synonym(s): CDA07; CDLS5; HD8; HDACL1; MRXS6; RPD3; WTS

The HDAC8 gene is associated with X-linked Cornelia de Lange syndrome (MedGen UID: 78752). Additionally, the HDAC8 gene has limited evidence supporting a correlation with X-linked Wilson-Turner syndrome (PMID: 22889856 ).

Synonym(s): ANF; CPHD5; RPX

The HESX1 gene is associated with autosomal recessive septo-optic dysplasia (SOD) (MedGen UID: 90926). Additionally, the HESX1 gene has preliminary evidence supporting a correlation with autosomal dominant idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS) (PMID: 23465708).

Synonym(s): hnRNP U; HNRNPU-AS1; HNRPU; SAF-A; SAFA; U21.1

The HNRNPU gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23934111, 24885232, 22975012, 22678713, 21800092) and autosomal dominant intellectual disability (PMID: 22678713, 25356899).

Synonym(s): HGPRT; HPRT

The HPRT1 gene is associated with X-linked recessive HPRT deficiency and includes the spectrum of Lesch Nyhan syndrome (MedGen UID: 9721) to isolated hyeruricemia with gout (MedGen UID: 82770).

Synonym(s): C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO; H-RASIDX; HAMSV; HRAS1; p21ras; RASH1

The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454). Other HRAS-related conditions have been reported (OMIM).

Synonym(s): CTM; CTRCT5

The HSF4 gene is associated with autosomal dominant cataracts (MedGen UID: 78608)

I
Synonym(s): HSPC039; MEDS; PRO2309

The IER3IP1 gene is associated with autosomal recessive microcephaly, epilepsy, and diabetes syndrome (MEDS) (MedGen UID: 481870).

Synonym(s): CED; CED1; SPG; WDR10; WDR10p; WDR140

The IFT122 gene is associated with autosomal recessive cranioectodermal dysplasia 1 (CED1) (MedGen UID: 96586).

Synonym(s): c305C8.4; c380F5.1; gs114; MZSDS; SRTD9; WDTC2

The IFT140 gene is associated with autosomal recessive Mainzer-Saldino syndrome (MedGen UID: 341455).

Synonym(s): BBS20; KIAA1179; NPHP17; osm-1; RP71; SLB; SRTD10; wim

The IFT172 gene is associated with autosomal recessive short-rib thoracic dysplasia 10 with or without polydactyly (MedGen UID: 816505). Additionally, the IFT172 gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic retinitis pigmentosa and autosomal recessive Bardet-Biedl syndrome (PMID: 25168386).

Synonym(s): ATD2; SRTD2; WDR56

The IFT80 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (MedGen UID: 468503).

Synonym(s): IMPD; IMPD1; IMPDH-I; LCA11; RP10; sWSS2608

The IMPDH1 gene is associated with autosomal dominant retinitis pigmentosa 10 (MedGen UID: 357247). Additionally, the IMPDH1 gene has preliminary evidence supporting a correlation with autosomal dominant Leber congenital amaurosis 11 (PMID: 16384941, 23661368).

Synonym(s): CORS1; CPD4; JBTS1; MORMS; PPI5PIV

The INPP5E gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 468502).

Synonym(s): INV; NPH2; NPHP2

The INVS gene is associated with autosomal recessive infantile nephronopthisis (MedGen UID: 355574).

Synonym(s): NPHP5; PIQ; SLSN5

The IQCB1 gene is associated with autosomal recessive nephronophthisis and Leber congenital amaurosis, which, when present together, are referred to as Senior-Loken syndrome (MedGen UID: 332226).

Synonym(s): BRAG1; MRX1; MRX78

The IQSEC2 gene is associated with X-linked intellectual disability (MedGen UID: 444070).

Synonym(s): LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1

The IRF6 gene is associated with autosomal dominant popliteal pterygium syndrome (MedGen UID: 78543) and autosomal dominant van der Woude syndrome (MedGen UID:61233). Additionally, the IRF6 gene has limited evidence supporting a correlation with non-syndromic orofacial cleft (MedGen UID: 332391).

Synonym(s): C20orf37; dJ794I6.3; EIEE35; HLC14-06-P; ITPase; My049; NTPase

The ITPA gene is associated with autosomal recessive inosine triphosphate pyrophosphohydrolase (ITPase) deficiency (MedGen UID: 333499).

J
Synonym(s): AGS; AHD; AWS; CD339; HJ1; JAGL1

The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434) and tetralogy of Fallot (MedGen UID: 21498).

Synonym(s): TRIP-8; TRIP8

The JMJD1C gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Rett syndrome and intellectual disability (PMID: 26181491).

K
Synonym(s): CENP-36; hMSL1v1; KDVS; KIAA1267; MSL1v1; NSL1

The KANSL1 gene is associated with autosomal dominant Koolen-de Vries syndrome (MedGen UID: 355853).

Synonym(s): GTPTS; MORF; MOZ2; MYST4; qkf; querkopf; ZC2HC6B

The KAT6B gene is associated with autosomal dominant genitopatellar syndrome (GPS) (MedGen UID: 381208) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) (MedGen UID: 350209).

Synonym(s): AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1; RBK1

The KCNA1 gene is associated with autosomal dominant episodic ataxia type 1 (EA1) (MedGen UID: 318554).

Synonym(s): EIEE32; HBK5; HK4; HUKIV; KV1.2; MK2; NGK1; RBK2

The KCNA2 gene is associated with autosomal dominant early infantile epileptic encephalopathy 32 (EIEE32) (MedGen UID: 833891).

Synonym(s): DRK1; Kv2.1

The KCNB1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy 26 (PMID: 25164438, 26648591).

Synonym(s): EPM7; KV3.1; KV4; NGK2

The KCNC1 gene is associated with autosomal dominant progressive myoclonic epilepsy 7 (PME7) (MedGen UID: 830625).

Synonym(s): KIAA1044; KV4.2; RK5

The KCND2 gene currently has no well-established disease association; however, there is preliminary evidence supporting correlation with epilepsy and J-wave syndrome (PMID: 24501278, 25214526, 16934482).

Synonym(s): ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1; LQT2; SQT1

The KCNH2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 2 (MedGen UID: 462293), short QT syndrome (SQTS) (MedGen UID: 355891) and Brugada syndrome (BrS) (MedGen UID: 222975).

Synonym(s): EAG2; H-EAG2; hEAG2; Kv10.2

The KCNH5 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23647072).

Synonym(s): BIRK-10; KCNJ13-PEN; KIR1.2; KIR4.1; SESAME

The KCNJ10 gene is associated with autosomal recessive SeSAME syndrome (MedGen UID: 411243).

Synonym(s): KIR1.4; KIR7.1; LCA16; SVD

The KCNJ13 gene is associated with autosomal dominant snowflake vitreoretinal degeneration (MedGen UID: 395476) and autosomal recessive Leber congenital amaurosis 16 (MedGen UID: 481692).

Synonym(s): bA205K10.1; BKTM; hSlo; KCa1.1; MaxiK; mSLO1; SAKCA; SLO; SLO-ALPHA; SLO1

The KCNMA1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant generalized epilepsy and paroxysmal dyskinesia (PMID:15937479).

Synonym(s): BFNC; EBN; EBN1; ENB1; HNSPC; KCNA11; KV7.2

The KCNQ2 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 342266) and early infantile epileptic encephalopathy (MedGen UID: 462336).

Synonym(s): BFNC2; EBN2; KV7.3

The KCNQ3 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 377707).

Synonym(s): bA100C15.2; EIEE14; ENFL5; KCa4.1; SLACK; Slo2.2

The KCNT1 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 767220) and early infantile epileptic encephalopathy (MedGen UID: 767109).

Synonym(s): CLN14; EPM3

The KCTD7 gene is associated with autosomal recessive progressive myoclonic epilepsy with or without intracellular inclusions (EPM3), also known as neuronal ceroid lipofuscinosis type 14 (CLN14) (MedGen UID: 388595).

Synonym(s): bA386N14.2; KABUK2; UTX

The KDM6A gene is associated with X-linked dominant Kabuki syndrome (MedGen UID: 162897).

Synonym(s): JBTS23; SRTD14; TALPID3

The KIAA0586 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 850958) and short-rib thoracic dysplasia (SRTD) 14 (MedGen UID: 851435).

Synonym(s): MRX98; XPN

The KIAA2022 gene is associated with X-linked intellectual disability 98 (IDX98) (MedGen UID: 813060).

Synonym(s): ATSV; C2orf20; HSN2C; MRD9; SPG30; UNC104

The KIF1A gene is associated with autosomal recessive hereditary sensory neuropathy type 2C (HSN2C) (MedGen UID: 481798) and autosomal recessive and dominant spastic paraplegia 30 (SPG30) (MedGen UID: 372152). The KIF1A gene is also associated with autosomal dominant intellectual disability 9 (ID9) (MedGen UID: 481913).

Synonym(s): ACLS; AGBK; HLS2; JBTS12; UNQ340

The KIF7 gene is associated with autosomal recessive acrocallosal syndrome (MedGen UID: 162915), hydrolethalus syndrome (MedGen UID: 481529) and Joubert syndrome 12 (MedGen UID: 162915).

Synonym(s): AAD10; ALR; CAGL114; KABUK1; KMS; MLL2; MLL4; TNRC21

The KMT2D gene is associated with autosomal dominant Kabuki syndrome (MedGen UID: 162897).

Synonym(s): IPOA8

The KPNA7 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive infantile spasms (PMID: 24045845).

Synonym(s): 2E4; MRT41

The KPTN gene is associated with autosomal recessive intellectual disability 41 (IDT41) (MedGen UID: 816555).

Synonym(s): C-K-RAS; c-Ki-ras2; CFC2; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; KI-RAS; KRAS1; KRAS2; NS; NS3; RALD; RASK2

The KRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 349931) and cardiofaciocutaneous (CFC) syndrome (MedGen UID: 501102). Other KRAS-related conditions have been reported (OMIM).

Synonym(s): CAM; CCM1

The KRIT1 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 349362).

L
Synonym(s): C6orf152

The LCA5 gene is associated with autosomal recessive Leber congenital amaurosis 5 (LCA5) (MedGen UID: 388031).

Synonym(s): EBAF; LEFTA; LEFTYA; TGFB4

The LEFTY2 gene is associated with autosomal dominant left-right axis malformations (also called LEFTY2-related heterotaxy; MedGen UID: 355624).

Synonym(s): ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT; ETL1; IB1099

The LGI1 gene is associated with autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 325326).

Synonym(s): HGCLAS; HUSSY-01; LAS; LIP1; LS; PDHLD

The LIAS gene is associated with autosomal recessive hyperglycinemia, lactic acidosis, and seizures (HGCLAS), also known as pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) (MedGen UID: 482517).

Synonym(s): CTRCT19; MP17; MP19

The LIM2 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive cataracts (PMID: 11917274).

Synonym(s): EPM9; LAMB2; LMN2

The LMNB2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive progressive myoclonic epilepsy 9 (PME9) (PMID: 25954030) and autosomal dominant susceptibility to acquired partial lipodystrophy (APL) (PMID: 16826530, 22768673).

Synonym(s): LCA14

The LRAT gene is associated with autosomal recessive Leber congenital amaurosis 14 (MedGen UID: 442375), and early-onset retinitis pigmentosa (MedGen UID: 442376).

Synonym(s): CILD19; LRTP; TSLRP

The LRRC6 gene is associated with autosomal recessive primary ciliary dyskinesia 19 (PCD19) (MedGen UID: 762332).

Synonym(s): DASS; LTBP-3; LTBP2; pp6425; STHAG6

The LTBP3 gene is associated with autosomal recessive dental anomalies and short stature (MedGen UID: 318659).

M
Synonym(s): MCOPS14

The MAB21L2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant syndromic microphthalmia 14 (MCOPS14) (PMID: 24906020).

MAF
Synonym(s): AYGRP; c-MAF; CCA4; CTRCT21

The MAF gene is associated with autosomal dominant Ayme-Gripp syndrome (MedGen UID: 371416). Additionally, the MAF gene has preliminary evidence supporting a correlation with autosomal dominant congenital cataracts (PMID: 17982426, 11772997).

Synonym(s): CFC3; MAPKK1; MEK1; MKK1; PRKMK1

The MAP2K1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).

Synonym(s): CFC4; MAPKK2; MEK2; MKK2; PRKMK2

The MAP2K2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).

Synonym(s): MAPKKK1; MEKK; MEKK 1; MEKK1; SRXY6

The MAP3K1 gene is associated with autosomal dominant 46,XY disorder of sex development (DSD) (MedGen UID: 462414).

Synonym(s): 3MC1; CRARF; CRARF1; MAP1; MAp44; MASP; MASP3; PRSS5; RaRF

The MASP1 gene is associated with autosomal recessive 3MC syndrome 1 (3MC1) (MedGen UID: 167100).

MAX
Synonym(s): bHLHd4

The MAX gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 313270).

Synonym(s): MRD1

The MBD5 gene is associated with autosomal dominant intellectual disability (MedGen UID: 409857). Additionally, the MBD5 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (ASD) (PMID: 23632792, 23055267).

Synonym(s): IDAS; MCI; MCIN

The MCIDAS gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 3467).

Synonym(s): AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT

The MECP2 gene is associated with X-linked dominant Rett syndrome / atypical Rett syndrome (MedGen UID: 48441) and X-linked intellectual disability (MedGen UID: 337496).

Synonym(s): ARC240; CAGH45; FGS1; HOPA; MED12S; OHDOX; OKS; OPA1; TNRC11; TRAP230

The MED12 gene is associated with X-linked recessive Lujan-Fryns syndrome (LFS) (MedGen UID: 167096), Opitz-Kaveggia syndrome (OKS) (MedGen UID: 113106), and Ohdo syndrome (MedGen UID: 785805). Additionally, the MED12 gene has preliminary evidence supporting a correlation with X-linked recessive intellectual disability (ID) (PMID: 26273451, 25644381).

Synonym(s): MRFACD; PROSIT240; THRAP2; TRAP240L

The MED13L gene is associated with autosomal dominant transposition of great arteries, dextro-looped 1 (MedGen UID: 332422).

Synonym(s): C5DELq14.3; DEL5q14.3

The MEF2C gene is associated with autosomal dominant MEF2C-related intellectual disability (MedGen UID: 462050).

Synonym(s): C19orf49; CRPT2; EGFL4; SBP1

The MEGF8 gene is associated with autosomal recessive Carpenter syndrome (MedGen UID: 226897).

Synonym(s): HsT18361; MRG1

The MEIS2 gene is associated with an autosomal dominant condition causing facial clefting, cardiac septal defects, and varying degrees of intellectual disability (PMID: 24678003, 20425846, 25712757).

Synonym(s): MEAI; SCG2

The MEN1 gene is associated with autosomal dominant multiple endocrine neoplasia type 1 (MEN1) syndrome (MedGen UID: 9957) and familial isolated hyperparathyroidism (FIHP) (OMIM: 145000).

Synonym(s): MCOP5; NNO2; RD6

The MFRP gene is associated with autosomal recessive isolated microphthalmia 5 (MCOP5) (MedGen UID: 410021).

Synonym(s): CCMD; CLN7

The MFSD8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 7 (CLN7) (MedGen UID: 325457).

MIP
Synonym(s): AQP0; CTRCT15; LIM1; MIP26; MP26

The MIP gene is associated with autosomal dominant congenital cataracts (MedGen UID: 815331).

Synonym(s): BBS6; HMCS; KMS; MKS

The MKKS gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and autosomal recessive McKusick-Kaufman syndrome (MedGen UID: 184924).

Synonym(s): BBS13; MES; MKS; POC12

The MKS1 gene is associated with autosomal recessive Meckel-Gruber syndrome (MedGen UID: 811346), and Joubert syndrome (PMID: 24886560).

Synonym(s): COCA2; FCC2; hMLH1; HNPCC; HNPCC2

The MLH1 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 232603) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): ATLD; HNGS1; MRE11; MRE11B

The MRE11 gene is associated with autosomal recessive ataxia-telangiectasia-like disorder (ATLD) (MedGen UID: 348929). There is preliminary evidence suggesting a phenotypic overlap between ATLD and autosomal recessive Joubert syndrome (PMID: 22863007). Additionally, the MRE11 gene has preliminary evidence supporting a correlation with autosomal dominant breast cancer in individuals who carry a single pathogenic MRE11 variant (PMID: 14684699, 24894818).

Synonym(s): COCA1; FCC1; HNPCC; HNPCC1; LCFS2

The MSH2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 423615) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): GTBP; GTMBP; HNPCC5; HSAP; p160

The MSH6 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 318886) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): ECTD3; HOX7; HYD1; STHAG1

The MSX1 gene is associated with tooth agenesis (MedGen UID: 43794) and orofacial clefting (MedGen UID: 373280). Additionally, the MSX1 gene has preliminary evidence supporting a correlation with autosomal dominant ectodermal dysplasia affecting the teeth and nails, also known as Witkop syndrome (PMID: 11369996).

Synonym(s): CRS2; FPP; HOX8; MSH; PFM; PFM1

The MSX2 gene is associated with autosomal dominant parietal foramina (MedGen UID: 358250), parietal foramina with cleidocranial dysplasia (MedGen UID: 401479), and craniosynostosis (MedGen UID: 468569).

Synonym(s): FRAP; FRAP1; FRAP2; RAFT1; RAPT1; SKS

The MTOR gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant familial focal epilepsy with variable foci (PMID: 26302787) and early infantile epileptic encephalopathy (PMID: 23934111).

Synonym(s): alpha-MHC; ASD3; CMD1EE; CMH14; MYHC; MYHCA; SSS3

The MYH6 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant atrial septal defects (MedGen UID:371845), hypertrophic cardiomyopathy (HCM) (MedGen UID: 442484), and dilated cardiomyopathy (DCM) (MedGen UID: 412965). Additional MYH6-related conditions have been reported (OMIM: 160710).

N
NBN
Synonym(s): AT-V1; AT-V2; ATV; NBS; NBS1; P95

The NBN gene is associated with an increased risk for autosomal dominant breast cancer in individuals who carry a single pathogenic NBN variant (PMID: 21514219, 16770759). Additionally, the NBN gene is associated with autosomal recessive Nijmegen breakage syndrome (NBS) (MedGen UID: 140771).

Synonym(s): EIEE21

The NECAP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy 21 (EIEE21) (PMID: 24399846).

Synonym(s): hNEDD4-2; NEDD4-2; NEDD4.2; RSP5

The NEDD4L gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23934111).

Synonym(s): NY-REN-55; SRPS2; SRPS2A; SRTD6

The NEK1 gene is associated with autosomal recessive short rib-polydactyly syndrome type 2 (SRP2), also known as Majewski syndrome (MedGen UID: 44252). Additionally, the NEK1 gene has preliminary evidence supporting a correlation with amyotrophic lateral sclerosis (PMID: 26945885, 27455347).

Synonym(s): JCK; NEK12A; NPHP9; RHPD2

The NEK8 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 462538).

NF1
Synonym(s): NFNS; VRNF; WSS

The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013). Additionally, evidence of varying degrees suggests a possible association between the NF1 gene and several cancer types (PMID: 23257896, 23165953, 25130111, 20833335).

NF2
Synonym(s): ACN; BANF; merlin; SCH

The NF2 gene is associated with autosomal dominant neurofibromatosis type 2 (NF2) (MedGen UID: 18014).

Synonym(s): CTF; MRSHSS; NF-I/X; NF1-X; NF1A; SOTOS2

The NFIX gene is associated with autosomal dominant Sotos syndrome 2 (MedGen UID: 766574) and Marshall-Smith syndrome (MedGen UID: 75551).

Synonym(s): IKBA; MAD-3; NFKBI

The NFKBIA gene is associated with autosomal dominant anhidrotic ectodermal dysplasia with T-cell immunodeficiency (EDA-ID) (MedGen UID: 394295).

Synonym(s): CDDG; CDG1V; PNG1; PNGase

NGLY1 is associated with autosomal recessive NGLY1-congenital disorder of glycosylation (CDG-Iv) (MedGen UID 815321).

Synonym(s): bA204B7.2; EPM2A; EPM2B; MALIN

The NHLRC1 gene is associated with autosomal recessive progressive myoclonic epilepsy (Lafora disease) (MedGen UID: 155631).

NHS
Synonym(s): CTRCT40; CXN; SCML1

The NHS gene is associated with X-linked Nance-Horan syndrome (MedGen UID: 208665).

Synonym(s): CDLS; CDLS1; IDN3; IDN3-B; Scc2

The NIPBL gene is associated with autosomal dominant Cornelia de Lange syndrome (MedGen UID: 429758).

Synonym(s): CHNG5; CSX; CSX1; HLHS2; NKX2.5; NKX2E; NKX4-1; VSD3

The NKX2-5 gene is associated with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), conotruncal heart malformations (MedGen UID: 341803), hypoplastic left heart (MedGen UID: 482415), and atrial septal defect with or without atrioventricular conduction defects (MedGen UID: 400040). Additionally, the NKX2-5 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 23661673), atrial fibrillation (MedGen UID: 445), and congenital hypothyroidism (MedGen UID: 482425).

Synonym(s): CSX2; CTHM; NKX2F; NKX4-2

The NKX2-6 gene is associated with autosomal recessive conotruncal heart malformations (MedGen UID: 341803).

Synonym(s): CILD6; HEL-S-99; NM23-H8; sptrx-2; SPTRX2; TXNDC3

The NME8 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID:370930).

Synonym(s): LCA9; NMNAT; PNAT1

The NMNAT1 gene is associated with autosomal recessive Leber congenital amaurosis 9 (LCA9) (MedGen UID: 325277).

Synonym(s): HTX5

The NODAL gene is associated with autosomal dominant heterotaxy (MedGen UID: 501198). Additionally, the NODAL gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 19553149).

Synonym(s): AOS5; AOVD1; hN1; TAN1

The NOTCH1 gene is associated with autosomal dominant aortic valve disorder (MedGen UID: 226776) and Adams-Oliver syndrome (MedGen UID: 807523).

Synonym(s): AGS2; HJCYS; hN2

The NOTCH2 gene is associated with autosomal dominant Hajdu-Cheney syndrome (MedGen UID: 182961) and Alagille syndrome 2 (ALGS2) (MedGen UID: 341844).

Synonym(s): JBTS4; NPH1; SLSN1

The NPHP1 gene is associated with autosomal recessive ciliopathies including nephronophthisis (MedGen UID: 343406), Senior-Loken syndrome (MedGen UID: 96045) and Joubert syndrome 4 (MedGen UID: 335526).

Synonym(s): CFAP31; MKS7; NPH3; RHPD; RHPD1; SLSN3

The NPHP3 gene is associated with autosomal recessive ciliopathies including nephronopthisis (MedGen UID: 346809), Meckel-Gruber syndrome (MedGen UID: 382217), and renal-hepatic-pancreatic dysplasia (MedGen UID: 382215).

Synonym(s): POC10; SLSN4

The NPHP4 gene is associated with autosomal recessive ciliopathies including nephronophthesis (MedGen UID: 339667) and Senior-Loken syndrome, type 4 (MedGen UID: 337697).

Synonym(s): AMDM; ANPb; ANPRB; ECDM; GUC2B; GUCY2B; NPRB; NPRBi; SNSK

The NPR2 gene is associated with autosomal recessive acromesomelic dysplasia, Maroteaux type (AMDM) (MedGen UID: 355199) and autosomal dominant epiphyseal chondrodysplasia, Miura type (ECDM) (MedGen UID: 799380). Additionally, the NPR2 gene has preliminary evidence supporting a correlation with autosomal dominant short stature (PMID: 16384845, 24001744).

Synonym(s): C16orf35; CGTHBA; HS-40; MARE; NPR3; RMD11

The NPRL3 gene is associated with autosomal dominant focal epilepsy (PMID: 26505888, 26285051).

Synonym(s): AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG; NROB1; SRXY2

The NR0B1 gene is associated with X-linked congenital adrenal hypoplasia (MedGen UID: 87442) and disorders of sex development (MedGen UID: 341190).

Synonym(s): ARP1; CHTD4; COUPTFB; COUPTFII; NF-E3; NR2F1; SVP40; TFCOUP2

The NR2F2 gene is associated with autosomal dominant congenital heart defects (MedGen UID: 777001) and heterotaxy (MedGen UID: 336609).

Synonym(s): AD4BP; ELP; FTZ1; FTZF1; hSF-1; POF7; SF-1; SF1; SPGF8; SRXY3

The NR5A1 gene is associated with autosomal dominant disorders of sex development (MedGen UID: 414114), spermatogenic failure (MedGen UID: 140793), and premature ovarian failure (MedGen UID: 38820).

Synonym(s): ALPS4; CMNS; N-ras; NCMS; NRAS1; NS6

The NRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 413028).

Synonym(s): Hs.22998; PTHSL2; SCZD17

The NRXN1 gene is associated with autosomal recessive idiopathic generalized epilepsy (PMID: 23294455, 25950944).

Synonym(s): ARA267; KMT3B; SOTOS; SOTOS1; STO

The NSD1 gene is associated with autosomal dominant Sotos syndrome (MedGen UID: 833601).

Synonym(s): H105E3; SDR31E1; XAP104

The NSDHL gene is associated with X-linked dominant CHILD syndrome (MedGen UID: 82697) and X-linked recessive CK syndrome (MedGen UID: 463131).

O
Synonym(s): INPP5F; LOCR; NPHL2; OCRL-1; OCRL1

The OCRL gene is associated with X-linked recessive Lowe syndrome (MedGen UID: 18145)

Synonym(s): 17-7A; 71-7A; CX0rf5; CXorf5; JBTS10; RP23; SGBS2

The OFD1 gene is associated with X-linked dominant Oral-facial-digital syndrome, type 1 (MedGen UID: 307142) and X-linked recessive OFD1-related Joubert syndrome (MedGen UID: 300804). Additionally, OFD1 has been reported in association with primary ciliary dyskinesia (PMID: 16783569).

Synonym(s): CPHD6; MCOPS5

The OTX2 gene is associated with autosomal dominant microphthalmia, anophthalmia, coloboma (MAC) spectrum (MedGen UID: 468558). Additionally, the OTX2 gene has preliminary evidence supporting a correlation with autosomal dominant pituitary hormone deficiency (MedGen UID: 462790; PMID: 18728160) and autosomal dominant Leber congenital amaurosis (LCA) (PMID: 23847139, 15846561).

P
Synonym(s): GROS1; LEPRE1; OI8

The P3H1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 410075).

Synonym(s): MRD17; SHMS

The c.607C>T, p.Arg203Trp variant in the PACS1 gene is associated with autosomal dominant intellectual disability 17 (ID17) (MedGen UID: 767257). Other variants in the PACS1 gene are not analyzed by this assay.

Synonym(s): C20orf48; HARP; HSS; NBIA1; PKAN

The PANK2 gene is associated with autosomal recessive pantothenate kinase-associated neurodegeneration (PKAN) (MedGen UID: 6708).

Synonym(s): FSGS7; PAPRS

The PAX2 gene is associated with autosomal dominant papillorenal syndrome (MedGen UID: 339002). Additionally, the PAX2 gene has preliminary evidence supporting a correlation with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 807486; PMID: 24676634).

Synonym(s): AN; AN2; D11S812E; FVH1; MGDA; WAGR

The PAX6 gene is associated with autosomal dominant Peter’s anamoly (MedGen UID: 91031), autosomal dominant aniridia (MedGen UID: 1941), autosomal dominant keratitis (MedGen UID: 332039) and autosomal dominant optic nerve malformations (OMIM: 120430). Additionally, the PAX6 gene has limited evidence supporting a correlation with autosomal dominant Gillespie syndrome (MedGen UID: 96563) and autosomal dominant foveal hypoplasia (MedGen UID: 342639). PAX6 is also involved in the contiguous gene deletion syndrome WAGR (MedGen UID: 64512).

Synonym(s): STHAG3

The PAX9 gene is associated with autosomal dominant tooth agenesis (MedGen UID: 43794).

Synonym(s): EFMR; EIEE9

The PCDH19 gene is associated with X-linked early infantile epileptic encephalopathy (MedGen UID: 338393). PCDH19-related EIEE appears to affect only heterozygous females while sparing obligate carrier males (PMID: 18469813).

Synonym(s): CCM3; TFAR15

The PDCD10 gene is associated with autosomal dominant cerebral cavernous malformations (MedGen UID: 355121).

Synonym(s): JBTS22; PDED

The PDE6D gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 816608).

Synonym(s): CD140B; IBGC4; IMF1; JTK12; KOGS; PDGFR; PDGFR-1; PDGFR1; PENTT

The PDGFRB gene is associated with autosomal dominant idiopathic basal ganglia calcification 4 (IBGC4) (MedGen UID: 767235), infantile myofibromatosis 1 (IMF1) (MedGen UID: 140933) and Penttinen-Aula syndrome (PENTT) (MedGen UID: 400936). Additionally, the PDGFRB gene has preliminary evidence supporting a correlation with autosomal dominant Kosaki overgrowth syndrome (KOGS) (MedGen UID: 851787).

Synonym(s): BFLS; BORJ; CENP-31

The PHF6 gene is associated with X-linked Borjeson-Forssman-Lehmann syndrome (BFLS) (MedGen UID: 78557).

Synonym(s): NBLST2; NBPhox; PMX2B

The PHOX2B gene is associated with autosomal dominant congenital central hypoventilation syndrome (CCHS) (MedGen UID: 347052).

Synonym(s): GPI3; MCAHS2; PIG-A; PNH1

The PIGA gene is associated with X-linked recessive multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) (MedGen UID: 477139).

Synonym(s): GPI7; LAS21; MRT53; PRO4405; RLGS1930

The PIGG gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive intellectual disability 53 (ID53) (PMID: 26996948).

Synonym(s): MCAHS; MCAHS1; MCD4; MDC4; PIG-N

The PIGN gene is associated with autosomal recessive multiple congenital anomalies-hypotonia-seizures syndrome 1 (MedGen UID: 481405).

Synonym(s): HPMRS2

The PIGO gene is associated with autosomal recessive hyperphosphatasia with intellectual disability syndrome (MedGen UID: 766551).

Synonym(s): c407A10.1; GPI1

The PIGQ gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive seizure disorder (PMID: 24463883).

Synonym(s): BCAP

The PIK3AP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with infantile spasms (PMID: 25262651).

Synonym(s): MPPH; MPPH1; p85; p85-BETA; P85B

The PIK3R2 gene is associated with autosomal dominant megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome 1 (MPPH1) (MedGen UID: 355095).

Synonym(s): ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS

The PITX2 gene is associated with autosomal dominant Axenfeld-Rieger syndrome (ARS) (MedGen UID: 811487) and autosomal dominant iridogoniodysgenesis (MedGen UID: 330750). Additionally, the PITX2 gene has limited evidence supporting a correlation with Peters anomaly (PMID: 10051017) and ring dermoid of cornea (PMID: 15591271).

Synonym(s): ASMD; ASOD; CTPP4; CTRCT11; PTX3

The PITX3 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 351162). Additionally, the PITX3 gene has preliminary evidence supporting a correlation with anterior segment mesenchymal dysgenesis (MedGen UID: 350766).

Synonym(s): APKD2; Pc-2; PC2; PKD4; TRPP2

The PKD2 gene is associated with autosomal dominant polycystic kidney disease, type 2 (MedGen UID: 442699).

Synonym(s): ARPKD; FCYT; TIGM1

The PKHD1 gene is associated with autosomal recessive polycystic kidney disease (MedGen UID: 39076).

Synonym(s): CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA; iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9

The PLA2G6 gene is associated with autosomal recessive neuroaxonal dystrophy (MedGen UID: 82852), dystonia-parkinsonism (MedGen UID: 414488) and autosomal recessive neurodegeneration with brain iron accumulation (NBIA) (MedGen UID: 448017).

Synonym(s): EIEE12; PI-PLC; PLC-154; PLC-beta-1; PLC-I; PLC154; PLCB1A; PLCB1B

The PLCB1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 462338).

Synonym(s): HNPCC4; MLH4; PMS2CL; PMSL2

The PMS2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 325005) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1; MR1; PDC; PKND1; TAHCCP2

The PNKD gene is associated with autosomal dominant familial paroxysmal nonkinesigenic dyskinesia (PNKD) (MedGen UID: 401504).

Synonym(s): AOA4; EIEE10; MCSZ; PNK

The PNKP gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 462017) and ataxia with oculomotor apraxia (PMID:25728773).

Synonym(s): HEL-S-302; PDXPO

The PNPO gene is associated with autosomal recessive pyridoxal 5’-phosphate-dependent epilepsy (MedGen UID: 350498).

Synonym(s): MDP1; MIRAS; MTDPS4A; MTDPS4B; PEO; POLG1; POLGA; SANDO; SCAE

The POLG gene is associated with a spectrum of related autosomal recessive conditions (MedGen UID: 60012) including mitochondrial DNA depletion syndrome 4A (Alpers type; MTDPS4A), mitochondrial DNA depletion syndrome 4B (MNGIE type; MTDPS4B), sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), spinocerebellar ataxia with epilepsy (SCAE), and progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOB1). In addition, the POLG gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1)(MedGen UID: 371919).

POR
Synonym(s): CPR; CYPOR; P450R

The POR gene is associated with autosomal recessive disordered steroidogenesis due to cytochrome p450 oxidoreductase (POR) deficiency (MedGen UID: 388773).

Synonym(s): CLN1; INCL; PPT

The PPT1 gene is associated with autosomal recessive forms of neuronal ceroid lipofuscinosis 1 (CLN1) (MedGen UID: 340540).

Synonym(s): MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS

The PQBP1 gene is associated with X-linked recessive Renpenning syndrome (MedGen UID: 208670).

Synonym(s): EPM10; PFM5

The PRDM8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive progressive myoclonic epilepsy (PMID: 22961547).

Synonym(s): EPM1B; RILP

The PRICKLE1 gene is associated with autosomal recessive progressive myoclonic epilepsy with ataxia (MedGen UID: 394003).

Synonym(s): EPM5

The PRICKLE2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant progressive myoclonic epilepsy 5 (PMID: 21276947, 23711981).

Synonym(s): PRIMA

The PRIMA1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nocturnal frontal lobe epilepsy (PMID: 26339676).

Synonym(s): ACRDYS1; ADOHR; CAMP-Dependent Protein Kinase; CAMP-Dependent Protein Kinase Type I-Alpha Regulatory Chain; CAMP-Dependent Protein Kinase Type I-Alpha Regulatory Subunit; CAR; CNC; CNC1; PKR1; PPNAD1; PRKAR1; Protein Kinase A Type 1a Regulatory Subunit; Regulatory Subunit Rialpha; Tissue-Specific Extinguisher 1; TSE1

The PRKAR1A gene is associated with autosomal dominant Carney complex (CNC) (MedGen UID: 388559).

Synonym(s): AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2; RDS; RP7; TSPAN22

The PRPH2 gene is associated with autosomal dominant and autosomal recessive PRPH2-related conditions including retinitis pigmentosa 7 (RP) (OMIM: 608133), Leber congenital amaurosis 18 (LCA) (OMIM: 608133), retinitis punctata albescens (RPA) (OMIM: 136880), macular dystrophy (MD) (OMIM: 608161), and central areolar choroidal dystrophy 2 (CACD) (OMIM: 613105).

Synonym(s): BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA; ICCA; IFITMD1; PKC

The PRRT2 gene is associated with a spectrum of related autosomal dominant neurological conditions (MedGen UID: 358268) including episodic kinesigenic dyskinesia 1 (EKD1), benign familial infantile seizures 2 (BFIS2), and familial infantile convulsions with paroxysmal choreoathetosis (ICCA).