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.

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.

up to 20 genes

Invitae Skeletal Ciliopathies Panel

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Genetic testing for up to 20 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.

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.

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.

31 genes

Invitae Joubert and Meckel-Gruber Syndromes Panel

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Genetic testing for 31 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.

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.

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).

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.

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.

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).

1 gene

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.

446 genes

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

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The Invitae Leukodystrophy and Genetic Leukoencephaly Panel has been developed to offer a broad, symptom-based approach to diagnosing heritable conditions that affect the white matter of the central nervous system, with or without peripheral nervous system involvement (PMID: 25649058). This panel also evaluates genes associated with conditions that do not fit the strict definition of leukodystrophy, but nevertheless affect the central white matter, such as certain inborn errors of metabolism, congenital muscular dystrophies with significant white matter involvement, progressive neurodegenerative disorders, and other neuronal disorders that affect myelination. Multiple nuclear-encoded genes associated with mitochondrial dysfunction that may result in white matter abnormalities have been included, however mitochondrial DNA is not evaluated by this panel. This panel includes genes associated with adult-onset neurodegenerative conditions, as well as, some genes that confer risk for both an autosomal recessive leukodystrophy and an autosomal dominant increased risk for cancer. (i.e. SDHA, SDHB, PTEN, SDHAF1).

265 genes

Invitae Cerebral Palsy Spectrum Disorders Panel

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The Invitae Cerebral Palsy Spectrum Disorders Panel analyzes a broad panel of genes to determine the underlying etiology of cerebral palsy (CP), which is a heterogeneous group of neurodevelopmental conditions characterized by abnormal movements, fluctuating patterns of muscle tone and posture (PMID: 25280894,30913345).

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.

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.

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).

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.

up to 69 genes

Invitae Early Infantile Epileptic Encephalopathy Panel

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Genetic testing for up to 69 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.

up to 10 genes

Invitae Holoprosencephaly Panel

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Genetic testing for up to 10 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.

up to 28 genes

Invitae Rett and Angelman Syndromes and Related Disorders Panel

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Genetic testing for up to 28 genes associated with Rett and Angelman syndromes and related early-onset developmental disorders in which epilepsy, developmental delay and intellectual disability are prominent findings.

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.

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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

up to 7 genes

Invitae Cornelia de Lange Syndrome Panel

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

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.

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).

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.

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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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.

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.

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).

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.

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.

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).

1 gene

Invitae Disorders of Female Sex Development Test

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Genetic testing for the SRY gene in individuals with a female karyotype of 46,XX and ambiguous or male genitalia, azoospermia, and absent Müllerian structures.

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).

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.

293 genes

Invitae Inherited Retinal Disorders Panel

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The Invitae Inherited Retinal Disorders Panel analyzes genes that are associated with inherited retinal disorders including but not limited to retinitis pigmentosa, cone-rod dystrophy and Leber congenital amaurosis. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication.

1 gene

Invitae Aniridia Test

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

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).

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.

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.

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.

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.

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.

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.

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.

up to 21 genes

Invitae Microphthalmia/Anophthalmia Disorders Panel

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Genetic testing for up to 21 genes associated with microphthalmia and/or anophthalmia, which is characterized by an absent or abnormally small eye with a short axial length.

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).

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.

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.

up to 26 genes

Invitae Overgrowth and Macrocephaly Syndromes Panel

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Genetic testing for up to 26 genes associated with overgrowth and macrocephaly.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

1 gene

Invitae Campomelic Dysplasia Test

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

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.

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.

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.

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.

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.

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.

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.

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.

up to 20 genes

Invitae Skeletal Ciliopathies Panel

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Genetic testing for up to 20 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

1 gene

Invitae TP63-Related Disorders Test

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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.

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.

Clinical Area: Epilepsy

up to 192 genes

Invitae Epilepsy Panel

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Genetic testing for up to 192 genes associated with syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent unprovoked seizures.

Clinical Area: Hereditary Cancer

6 genes

Invitae Chronic Pancreatitis Panel

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Genetic testing of 6 genes associated with chronic pancreatitis, characterized by persistent pancreatic inflammation, pain, maldigestion and diabetes mellitus.

53 genes

Invitae Pediatric Solid Tumors Panel

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Genetic testing for 53 genes associated with a hereditary predisposition to the development of pediatric solid tumors.

up to 34 genes

Invitae Pediatric Nervous System/Brain Tumors Panel

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Genetic testing for up to 34 genes associated with a hereditary predisposition to developing pediatric brain and central nervous system tumors.

16 genes

Invitae Pediatric Hematologic Malignancies Panel

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

Clinical Area: Hypophosphatemia

1 gene

Invitae X-Linked Hypophosphatemia Test

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The Invitae X-Linked Hypophosphatemia Test analyzes the PHEX gene, which is associated with the most common genetic form of hypophosphatemia.

17 genes

Invitae Hypophosphatemia Panel

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The genetic forms of hypophosphatemia are heterogeneous conditions which are characterized by abnormal phosphate levels leading to abnormal growth of bones and teeth.

Clinical Area: EXOME

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Invitae Boosted Exome, Proband-Only

Only the proband (affected individual) is tested.

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Invitae Boosted Exome, Duo

Proband and one biological parent (affected or unaffected) are tested.

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Invitae Boosted Exome, Trio

Proband and both biological parents (affected or unaffected) are tested.

Clinical Area: Pediatric developmental disorders

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

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

Gene
A
A2ML1

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).

AARS

The AARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) (MedGen UID: 413754) and autosomal recessive early infantile epileptic encephalopathy 29 (EIEE29) (MedGen UID: 908570).

AARS2

The AARS2 gene is associated with autosomal recessive progressive leukoencephalopathy with ovarian failure (LKENP) (MedGen UID: 863025), and autosomal recessive combined oxidative phosphorylation deficiency 8 (COXPD8) (MedGen UID: 481423).

ABAT

The ABAT gene is associated with autosomal recessive GABA-transaminase (GABA-T) deficiency (MedGen UID: 137977).

ABCA1

The ABCA1 gene is associated with autosomal recessive Tangier disease (MedGen UID: 52644). Additionally, the ABCA1 gene has preliminary evidence supporting a correlation with autosomal dominant high-density lipoprotein (HDL) deficiency (MedGen UID: 352844).

ABCD1

The ABCD1 gene is associated with X-linked adrenoleukodystrophy (X-ALD) (MedGen UID: 57667).

ACADM

The ACADM gene is associated with autosomal recessive medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MedGen UID: 65086).

ACADS

The ACADS gene is associated with autosomal recessive short chain acyl-CoA dehydrogenase (SCAD) deficiency (MedGen UID: 90998), a biochemical phenotype which may or may not result in a clinical condition.

ACADVL

The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 854382).

ACAT1

The ACAT1 gene is associated with autosomal recessive beta-ketothiolase deficiency (aka mitochondrial acetoacetyl-CoA thiolase deficiency) (MedGen UID: 280689).

ACBD5

The ACBD5 gene is associated with an autosomal recessive syndrome involving cone-rod dystrophy and white matter disease (PMID: 23105016, 27799409).

ACER3

The ACER3 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with leukodystrophy (MedGen UID 1622324).

ACO2

The ACO2 gene is associated with autosomal recessive infantile cerebellar-retinal degeneration (ICRD) (MedGen UID: 482822). Additionally, the ACO2 gene has preliminary evidence supporting a correlation with autosomal recessive optic atrophy (PMID: 25351951) and epilepsy (PMID: 26795593).

ACOX1

The ACOX1 gene is associated with autosomal recessive acyl-CoA oxidase deficiency (also known as pseudoneonatal adrenoleukodystrophy) (MedGen UID: 376636).

ACP5

The ACP5 gene is associated with autosomal recessive spondyloenchondrodysplasia with immune dysregulation (SED) (MedGen UID: 375009).

ACTB

The ACTB gene is associated with autosomal dominant Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 340943) and juvenile-onset dystonia (MedGen UID: 339494).

ACTC1

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).

ACTG1

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

ACVR2B

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

ACY1

The ACY1 gene is associated with autosomal recessive aminoacylase-1 deficiency (MedGen UID: 324393).

ADAR

The ADAR gene is associated with autosomal dominant dyschromatosis symmetrica hereditaria (DSH) (MedGen UID: 96071) and autosomal recessive Aicardi Goutieres syndrome (AGS) (MedGen UID: 761287).

ADCY5

The ADCY5 gene is associated with autosomal dominant ADCY5-related dyskinesia (MedGen UID: 338280).

ADD3

The ADD3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with spastic quadriplegic cerebral palsy (MedGen UID: 442852) and multiple congenital anomalies (PMID: 29768408).

ADGRG1

The ADGRG1 gene is associated with autosomal recessive polymicrogyria (MedGen UID: 816735, 376107).

ADK

The ADK gene is associated with autosomal recessive adenosine kinase deficiency (MedGen UID: 482011).

ADSL

The ADSL gene is associated with autosomal recessive adenylosuccinate lyase (ADSL) deficiency (MedGen UID: 78641). Up to 6% of affected individuals have a pathogenic variant in the promoter region, which is not currently included in this assay (PMID: 25112391, 12016589).

AFF4

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).

AGA

The AGA gene is associated with autosomal recessive aspartylglucosaminuria (AGU) (MedGen UID: 78649).

AGK

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)

AGPS

The AGPS gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 3 (RCDP) (MedGen UID: 374012).

AHDC1

The AHDC1 gene is associated with autosomal dominant Xia-Gibbs syndrome (MedGen UID: 862856).

AHI1

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

AIFM1

The AIFM1 gene is associated with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), also known as Cowchock syndrome (MedGen UID: 162891), and X-linked spondylometaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) (MedGen UID: 335350). In addition, the AIFM1 gene has preliminary evidence supporting a correlation with X-linked combined oxidative phosphorylation deficiency 6 (COXPD6) (MedGen UID: 463103), and X-linked deafness-5 (MedGen UID: 335096).

AIMP1

The AIMP1 gene is associated with autosomal recessive hypomyelinating leukodystrophy 3 (HLD3) (MedGen UID: 342403).

AIMP2

The AIMP2 gene is associated with autosomal recessive hypomyelinating leukodystrophy-17 (HLD17) (MedGen UID: 1644557).

AIP

The AIP gene is associated with predisposition to autosomal dominant familial isolated pituitary adenoma (FIPA) (PMID: 25019383, 19794292).

AIPL1

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).

AKT1

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).

AKT2

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).

AKT3

The AKT3 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 863175).

ALDH1A3

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

ALDH3A2

The ALDH3A2 gene is associated with autosomal recessive Sjögren-Larsson syndrome (SLS) (MedGen UID: 11443).

ALDH5A1

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

ALDH6A1

The ALDH6A1 gene is associated with autosomal recessive methylmalonate semialdehyde dehydrogenase deficiency (MedGen UID: 481470).

ALDH7A1

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

ALG13

The ALG13 gene is associated with X-linked congenital disorder of glycosylation ALG13-CDG-Is (MedGen UID: 763818) and early infantile epileptic encephalopathy (EIEE) (MedGen UID: 763818).

ALG2

The ALG2 gene is associated with autosomal recessive congenital myasthenic syndrome 14 (CMS14) (MedGen UID: 864034). Additionally, the ALG2 gene has preliminary evidence supporting a correlation with autosomal recessive ALG2-congenital disorder of glycosylation (CDG-Ii) (MedGen UID: 334618).

ALK

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

ALMS1

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

ALPL
ALS2

The ALS2 gene is associated with a spectrum of autosomal recessive conditions: infantile-onset ascending hereditary spastic paraplegia (IAHSP) (MedGen UID: 335467), juvenile primary lateral sclerosis (JPLS) (MedGen UID: 342870), and juvenile amyotrophic lateral sclerosis 2 (ALS2) (MedGen UID: 349246).

AMACR

The AMACR gene is associated with autosomal recessive alpha-methylacyl-CoA racemase (AMACR) deficiency (MedGen UID: 482058).

AMPD2

The AMPD2 gene is associated with autosomal recessive pontocerebellar hypoplasia, type 9 (PCH9) (MedGen UID: 862791). Additionally, the AMPD2 gene has preliminary evidence supporting a correlation with spastic paraplegia 63 (SPG63) (MedGen UID:816625).

AMT

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

ANK3

The ANK3 gene is associated with an autosomal recessive intellectual disability syndrome (MedGen UID: 816002). Additionally, the ANK3 gene has preliminary evidence supporting a correlation with autosomal dominant Tourette syndrome (MedGen UID: 21219) and a spectrum of autosomal dominant neurodevelopmental and cardiac disorders (PMID: 28687526, 28991257).

ANKRD11

The ANKRD11 gene is associated with autosomal dominant KBG syndrome (MedGen UID: 66317) and Cornelia de Lange Syndrome (CdLS) (PMID: 25652421, 25125236).

ANKS6

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

ANOS1

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

AP1S2

The AP1S2 gene is associated with X-linked recessive Pettigrew syndrome (MedGen UID: 162924).

AP4B1

The AP4B1 gene is associated with autosomal recessive hereditary spastic paraplegia 47 (SPG47) (MedGen UID: 481368).

AP4E1

The AP4E1 gene is associated with autosomal recessive hereditary spastic paraplegia 51 (SPG51) (MedGen UID: 462406).

AP4M1

The AP4M1 gene is associated with autosomal recessive hereditary spastic paraplegia 50 (SPG50) (MedGen UID: 442869). Additionally, the AP4M1 gene has preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation (NBIA) (PMID: 29473051).

AP4S1

The AP4S1 gene is associated with autosomal recessive hereditary spastic paraplegia 52 (SPG52) (MedGen UID: 481373).

APC

The APC gene is associated with autosomal dominant familial adenomatous polyposis (FAP) (MedGen UID: 398651), attenuated FAP (AFAP) (MedGen UID: 436213), and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) (PMID: 27087319).

APOPT1

The APOPT1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).

APP

The APP gene is associated with autosomal dominant Alzheimer disease type 1 (AD1) (MedGen UID: 1853) and APP-related cerebral amyloid angiopathy (CAA) (MedGen UID: 414044).

APTX

The APTX gene is associated with autosomal recessive ataxia with oculomotor apraxia type 1 (AOA1) (MedGen UID: 395301).

AR

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.

ARCN1

The ARCN1 gene is associated with autosomal dominant rhizomelic short stature with microcephaly, micrognathia and developmental delay (SRMMD) (MedGen UID: 934653).

ARG1

The ARG1 gene is associated with autosomal recessive arginase deficiency (MedGen UID: 78688).

ARHGAP31

The ARHGAP31 gene is associated with autosomal dominant Adams-Oliver syndrome (AOS) (MedGen UID: 472018). Additionally, the ARHGAP31 gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular outflow tract obstruction (PMID: 27760138).

ARHGEF15

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).

ARHGEF9

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

ARL13B

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

ARL6

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

ARMC4

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

ARNT2

The ARNT2 gene is associated with autosomal recessive Webb-Dattani syndrome (MedGen UID: 863145).

ARSA

The ARSA gene is associated with autosomal recessive metachromatic leukodystrophy (MLD) (MedGen UID: 6071). Biochemical testing for arylsulfatase A (ARSA) enzyme activity and urine sulfatides should be considered in individuals with clinical suspicion of metachromatic leukodystrophy (PMIDs: 4953831, 4192207, 6054756).

ARSB

The ARSB gene is associated with autosomal recessive mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (MedGen UID: 44514).

ARSE

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

ARX

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).

ASL

The ASL gene is associated with autosomal recessive argininosuccinate lyase deficiency (MedGen UID: 78687).

ASNS

The ASNS gene is associated with autosomal recessive asparagine synthetase (ASNS) deficiency (MedGen UID: 816301).

ASPA

The ASPA gene is associated with autosomal recessive Canavan disease (MedGen UID: 61565).

ASS1

The ASS1 gene is associated with autosomal recessive citrullinemia type I (MedGen UID: 104491).

ASXL1

The ASXL1 gene is associated with autosomal dominant Bohring-Opitz syndrome (BOS), which is also known as C-like syndrome (MedGen UID: 208678).

ASXL2

The ASXL2 gene is associated with autosomal dominant Shashi-Pena syndrome (MedGen UID: 934639).

ATAD1

The ATAD1 gene is associated with autosomal recessive hyperekplexia-4 (MedGen UID: 1642659).

ATM

The ATM gene is associated with autosomal dominant predisposition to breast, pancreatic (PMID: 26483394) and prostate cancers (PMID: 16998505, 15928302, 26662178, 26483394, 27324988) and autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439). Additionally, there is preliminary evidence suggesting ATM is associated with autosomal dominant predisposition to other cancer types including stomach, bladder and colon; although available evidence is insufficient to make a determination regarding these relationships (PMID: 26098866, 26662178, 15928302, 29348823, 15928302).

ATP13A2

The ATP13A2 gene is associated with autosomal recessive Kufor-Rakeb syndrome (KRS) (MedGen UID: 338281), also known as Parkinson disease 9 (PARK9), and autosomal recessive hereditary spastic paraplegia (SPG78) (MedGen UID: 934629). Additionally, the ATP13A2 gene has preliminary evidence supporting a correlation with autosomal recessive neuronal ceroid lipofuscinoses (PMID: 22388936) and amyotrophic lateral sclerosis (PMID: 30992063).

ATP1A2

The ATP1A2 gene is associated with autosomal dominant familial hemiplegic migraine (FHM) (MedGen UID: 355962) and alternating hemiplegia of childhood 1 (AHC) (MedGen UID: 762361). Additionally, the ATP1A2 gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 27864847).

ATP1A3

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 type 2 (AHC2) (MedGen UID: 766702).

ATP6AP2

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

ATP7A

The ATP7A gene is associated with X-linked Menkes disease (MedGen UID: 44030), occipital horn syndrome (OHS) (MedGen UID: 82793) and distal hereditary motor neuropathy (HMN) (MedGen UID: 335168).

ATP7B

The ATP7B gene is associated with autosomal recessive Wilson disease (MedGen UID: 42426).

ATP8A2

The ATP8A2 gene is associated with autosomal recessive cerebellar ataxia, intellectual disability and dysequilibrium syndrome 4 (CAMRQ4) (MedGen UID: 815307).

ATPAF2

The ATPAF2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex V (ATP synthase) deficiency nuclear type 1 (MedGen UID: 398105).

ATRN
ATRX

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

AUH

The AUH gene is associated with autosomal recessive 3-methylglutaconic aciduria type 1 (MedGen UID: 473073).

AXIN2

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

B
B3GALNT2

The B3GALNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A11 (MDDGA11) (MedGen UID: 767552).

B3GALT6

The B3GALT6 gene is associated with a spectrum of autosomal recessive conditions with features of both spondyloepimetaphyseal dysplasia (MedGen UID: 98148) and Ehlers-Danlos syndrome (MedGen UID: 815540).

B3GAT3

The B3GAT3 gene is associated with the autosomal recessive multiple joint dislocations, short stature and craniofacial dysmorphism with or without congenital heart defects (JDSCD) (MedGen UID: 480034).

B9D1

The B9D1 gene is associated with autosomal recessive ciliopathies, including Meckel syndrome (MedGen UID: 481785) and Joubert syndrome (MedGen UID: 934673).

B9D2

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

BAP1

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

BBS1

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

BBS10

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

BBS12

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

BBS2

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

BBS4

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).

BBS5

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

BBS7

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

BBS9

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

BCAP31

The BCAP31 gene is associated with X-linked recessive deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome (MedGen UID: 812964)

BCKDHA

The BCKDHA gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

BCKDHB

The BCKDHB gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

BCL11B

The BCL11B gene is associated with autosomal dominant BCL11B deficiency (MedGen UID: 934623).

BCOR

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).

BCS1L

The BCS1L gene is associated with autosomal recessive mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) (MedGen UID: 762097), Bjornstad syndrome (MedGen UID: 82728), and GRACILE syndrome (MedGen UID: 400428).

BFSP1

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

BFSP2

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

BLM

The BLM gene is associated with autosomal recessive Bloom syndrome (MedGen UID: 2685).

BMP4

The BMP4 gene is associated with autosomal dominant microphthalmia (MCOP) (MedGen UID: 355268). Additionally, the BMP4 gene has preliminary evidence supporting a correlation with autosomal dominant orofacial clefting (PMID: 19249007, 21340693) and tooth agenesis (PMID: 31128441).

BMPR1A

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

BMPR1B

The BMPR1B gene is associated with autosomal recessive acromesomelic dysplasia (MedGen UID: 324453). Additionally, the BMPR1B gene has preliminary evidence supporting a correlation with autosomal dominant brachydactyly (MedGen UID: 318690) and pulmonary arterial hypertension (MedGen UID: 57749).

BOLA3

The BOLA3 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 2 (MMDS2) (MedGen UID: 482008).

BRAF

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

BRAT1

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

BTD

The BTD gene is associated with autosomal recessive biotinidase deficiency (MedGen UID: 66323).

C
C12orf57

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

C12orf65

The C12ORF65 gene is associated with autosomal recessive hereditary spastic paraplegia 55 (SPG55) (PMID: 23188110, 24080142) and autosomal recessive combined oxidative phosphorylation deficiency 7 (COXPD7) (MedGen UID: 462151).

C19orf12

The C19orf12 gene is associated with autosomal dominant and recessive mitochondrial membrane protein-associated neurodegeneration (MPAN) (MedGen UID: 482001). Additionally, the C19orf12 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 43 (SPG43) (MedGen UID: 760531).

CACNA1A

The CACNA1A gene is associated with autosomal dominant early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934683), episodic ataxia type 2 (EA2) (MedGen UID: 314039), and familial hemiplegic migraine type 1 (FHM1) (MedGen UID: 331389). Additionally, the CACNA1A gene is associated with autosomal dominant spinocerebellar ataxia 6 (SCA6) (MedGen UID: 148458) caused by trinucleotide repeat expansion. Trinucleotide repeat expansions are not evaluated by this assay.

CACNA1H

The CACNA1H gene is associated with autosomal dominant familial hyperaldosteronism (MedGen UID: 934723). Additionally, the CACNA1H gene has preliminary evidence supporting a correlation with autosomal dominant generalized epilepsy syndromes (PMID: 12891677, 15048902 , 17696120).

CACNA2D2

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

CACNB4

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).

CARS2

The CARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 27 (COXPD27) (MedGen UID: 322999).

CASK

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).

CASR

The CASR gene is associated with a spectrum of disorders including autosomal dominant familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 369200), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), ADH with Bartter syndrome (MedGen UID: 811594), autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326), and possibly an increased risk for familial isolated hyperparathyroidism (FIHP) (PMID: 14985373, 21521328). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624).

CBL

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

CBS

The CBS gene is associated with autosomal recessive homocystinuria due to cystathionine beta-synthase (CBS) deficiency (MedGen UID: 461694).

CC2D2A

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).

CCDC103

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

CCDC114

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

CCDC151

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

CCDC39

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

CCDC40

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

CCDC65

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

CCDC88A

The CCDC88A gene is associated with autosomal recessive progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (PEHO-like syndrome) (MedGen UID: 337956). Additionally, the CCDC88A gene has preliminary evidence supporting a correlation with autistic spectrum/developmental delay (PMID: 28191890, 28135719).

CCM2

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

CCNO

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

CDC73

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.

CDKL5

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).

CDKN1C

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).

CDON

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).

CEBPA

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

CEP104

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

CEP120

The CEP120 gene is associated with autosomal recessive Joubert syndrome (PMID: 27208211, MedGen UID: 1618082) and short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) (PMID: 25361962; MedGen UID: 468503).

CEP164

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

CEP290

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).

CEP41

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

CEP83

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

CERS1

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).

CFAP298

The CFAP298 gene, formerly known as C21orf59, is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816014).

CFAP410
CFAP52

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).

CFAP53

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

CFTR

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

CHD2

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

CHD7

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 765467).

CHM

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

CHMP2B

The CHMP2B gene is associated with autosomal dominant frontotemporal dementia (FTD3) (MedGen UID: 318833). Additionally, the CHMP2B gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 17 (ALS17) (MedGen UID: 373010).

CHMP4B

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).

CHRNA1

The CHRNA1 gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 373259, 199759). Additionally, the CHRNA1 gene has preliminary evidence supporting a correlation with autosomal recessive fetal akinesia deformation sequence (FADS) (MedGen UID: 381473).

CHRNA2

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

CHRNA4

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

CHRNB2

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

CHST14

The CHST14 gene is associated with autosomal recessive CHST14-congenital disorder of glycosylation, also known as musculocontractural type Ehlers-Danlos syndrome (MedGen UID 356497).

CHST3

The CHST3 gene is associated with autosomal recessive spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) (MedGen UID: 374477).

CLCN2

The CLCN2 gene is associated with autosomal recessive leukoencephalopathy with ataxia (MedGen UID: 816572).

CLCN4

The CLCN4 gene is associated with X-linked early infantile epileptic encephalopathy (EIEE) (PMID: 27550844, 25644381). Additionally, the CLCN4 gene has preliminary evidence supporting a correlation with X-linked intellectual disability (PMID: 27550844, 25644381).

CLCN5
CLCN7

The CLCN7 gene is associated with autosomal recessive osteopetrosis (MedGen UID: 370598), autosomal dominant osteopetrosis (MedGen UID: 465707), and autosomal dominant hypopigmentation, organomegaly, and delayed myelination and development (HOD) (MedGen UID: 1672512).

CLN2 (TPP1)

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

CLN3

The CLN3 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 3 (CLN3) (MedGen UID: 155549) and non-syndromic retinitis pigmentosa (PMID: 28542676, 24154662).

CLN5

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

CLN6

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

CLN8

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

CLP1

The CLP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with pontocerebellar hypoplasia (PMID: 28097321, 24766809).

CLPP

The CLPP gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 814744).

CNTN2

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

CNTNAP1

The CNTNAP1 gene is associated with autosomal recessive lethal congenital contracture syndrome 7 (LCCS7) (MedGen UID: 894160) and and congenital hypomyelinating neuropathy 3 (CHN3) (MedGen UID: 1648417).

CNTNAP2

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).

COASY

The COASY gene is associated with autosomal recessive COASY protein-associated neurodegeneration (CoPAN) (MedGen UID: 816560).

COL11A1
COL1A1

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).

COL1A2

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).

COL2A1
COL4A1

The COL4A1 gene is associated with a spectrum of overlapping autosomal dominant conditions including brain small vessel disease with hemorrhage (BSVD) (MedGen UID: 861472), porencephaly (MedGen UID: 1647320), hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) (MedGen UID: 382033), and tortuosity of retinal arteries (RATOR) (MedGen UID: 356748).

COL4A2

The COL4A2 gene is associated with autosomal dominant porencephaly (MedGen UID: 482600).

COL9A1
COL9A2
COL9A3
COQ2

The COQ2 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 764868).

COQ4

The COQ4 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 833081).

COQ6

The COQ6 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766263).

COQ7

The COQ7 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 852232).

COQ8A

The COQ8A gene is associated with autosomal recessive primary coenzyme Q10 deficiency 4 (COQ10D4) (MedGen UID: 436985).

COQ9

The COQ9 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766288).

COX10

The COX10 gene is associated with autosomal recessive complex IV deficiency (MedGen UID: 75662).

COX14

The COX14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex IV deficiency (PMID: 22243966).

COX15

The COX15 gene is associated with autosomal recessive complex IV deficiency (MedGen UID: 346817).

COX20

The COX20 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).

COX6B1

The COX6B1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).

COX7B

The COX7B gene is associated with X-linked dominant linear skin defects with multiple congenital anomalies (LSDMCA) (MedGen UID: 763835).

COX8A

The COX8A gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with mitochondrial complex IV deficiency (MedGen UID: 75662).

CP

The CP gene is associated with autosomal recessive aceruloplasminemia (MedGen UID: 168057). Additionally, the CP gene has preliminary evidence supporting a correlation with autosomal dominant aceruloplasminemia (PMID: 10206163).

CPA1

The CPA1 gene is associated with autosomal dominant hereditary pancreatitis (PMID: 28258133, 23955596).

CPA6

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).

CPLANE1

The CPLANE1 gene, formerly known as C5orf42, is associated with autosomal recessive Joubert syndrome (MedGen UID: 766178) and orofaciodigital syndrome, type VI (OFD6) (MedGen UID: 411200).

CPLX1

The CPLX1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 1646846).

CPS1

The CPS1 gene is associated with autosomal recessive carbamoyl phosphate synthetase I (CPS1) deficiency (MedGen UID: 199727).

CRAT

The CRAT gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive neurodegeneration with brain iron accumulation-8 (MedGen UID: 1645224) and carnitine acetyltransferase deficiency (PMID: 31448845).

CRB1

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

CREBBP

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.

CRELD1

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).

CRTAP

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

CRX

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

CRYAA

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

CRYAB

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).

CRYBA1

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

CRYBA4

The CRYBA4 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 351240). Additionally, the CRYBA4 gene has preliminary evidence supporting a correlation with autosomal recessive cataracts (PMID: 28418495) and autosomal dominant microphthalmia (PMID: 16960806).

CRYBB1

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

CRYBB2

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

CRYBB3

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).

CRYGB

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).

CRYGC

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

CRYGD

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).

CRYGS

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

CSF1R

The CSF1R gene is associated with autosomal dominant hereditary diffuse leukoencephalopathy with spheroids (HDLS) (MedGen UID: 777989).

CSPP1

The CSPP1 gene is associated with with autosomal recessive ciliopathies, including Meckel syndrome (MedGen UID: 481785) and Joubert syndrome (MedGen UID: 934673). A minority of individuals affected by CSPP1-related Joubert syndrome have also been reported with Jeune asphyxiating thoracic dystrophy (PMID: 24360808).

CSTB

The CSTB gene is associated with autosomal recessive Unverricht-Lundborg syndrome (EPM1) (MedGen UID: 155923), a subtype of progressive myoclonic epilepsy. Most cases of EPM1 are due to a dodecamer repeat expansion, which is not analyzed by this test.

CTBP1

The CTBP1 gene is associated with autosomal dominant hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) (MedGen UID: 1647427).

CTC1

The CTC1 gene is associated with autosomal recessive cerebroretinal microangiopathy with calcifications and cysts type 1 (CRMCC1), also known as Coats plus syndrome (MedGen UID: 1636142).

CTDP1

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

CTNNB1

The CTNNB1 gene is associated with an autosomal dominant intellectual disability syndrome (MedGen UID: 767363) and familial exudative vitreoretinopathy (FEVR) (MedGen UID: 1626650).

CTNS

The CTNS gene is associated with autosomal recessive cystinosis, including nephropathic, intermediate and ocular non-nephropathic types (MedGen UIDs: 1207, 347449, 75701).

CTRC

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

CTSA

The CTSA gene is associated with autosomal recessive galactosialidosis (MedGen UID: 82779).

CTSB

The CTSB gene is associated with autosomal dominant keratolytic winter erythema (MedGen UID: 98359).

CTSD

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

CUL4B

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

CYP1B1

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).

CYP27A1

The CYP27A1 gene is associated with autosomal recessive cerebrotendinous xanthomatosis (CTX) (MedGen UID: 116041).

CYP27B1
CYP2R1
CYP2U1

The CYP2U1 gene is associated with autosomal recessive hereditary spastic paraplegia 56 (SPG56) (MedGen UID: 761343).

CYP7B1

The CYP7B1 gene is associated with autosomal recessive hereditary spastic paraplegia type 5A (SPG5A) (MedGen UID: 376521). Additionally, the CYP7B1 has preliminary evidence supporting a correlation with autosomal recessive congenital bile acid synthesis defect type 3 (CBAS3) (MedGenUID: 462497).

D
D2HGDH

The D2HGDH gene is associated with autosomal recessive D-2-hydroxyglutaric aciduria (MedGen UID: 463405).

DAG1

The DAG1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A9 (MDDGA9) (MedGen UID: 851332) and type C9 (MDDGC9) (MedGen UID: 462534).

DARS

The DARS gene is associated with autosomal recessive leukodystrophy: hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) (MedGen UID: 815338).

DARS2

The DARS2 gene is associated with autosomal recessive leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) (MedGen UID: 370845).

DBH

The DBH gene is associated with autosomal recessive dopamine beta-hydroxylase deficiency (MedGen UID: 90992).

DBT

The DBT gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

DCAF17

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

DCDC2

The DCDC2 gene is associated with autosomal recessive nephronophthisis 19 (NPHP19) (MedGen UID: 863979). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 25601850).

DDC

The DDC gene is associated with autosomal recessive aromatic L-amino acid decarboxylase (AADC) deficiency (MedGen UID: 220945).

DDHD2

The DDHD2 gene is associated with autosomal recessive hereditary spastic paraplegia 54 (SPG54) (MedGen UID: 761341).

DDOST

The DDOST gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive DDOST-congenital disorder of glycosylation (CDG-Ir) (PMID: 22305527).

DEAF1

The DEAF1 gene is associated with autosomal dominant and autosomal recessive neurodevelopmental disorders (MedGen UID: 862851, 934650).

DEGS1

The DEGS1 gene is associated with autosomal recessive hypomyelinating leukodystrophy (HLD) (MedGen UID: 941380).

DEPDC5

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).

DGKZ

The DGKZ gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive atypical cerebral palsy (PMID: 30542205).

DGUOK

The DGUOK gene is associated with autosomal recessive mitochondrial DNA depletion syndrome 3 (MTDPS3) (MedGen UID: 462863) and progressive external ophthalmoplegia with mitochondrial DNA deletions (PEOB4) (MedGen UID: 934700).

DHCR7

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

DHFR

The DHFR gene is associated with autosomal recessive megaloblastic anemia due to dihydrofolate reductase deficiency (MedGen UID: 462555).

DHH

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

DIAPH1

The DIAPH1 gene is associated with autosomal recessive seizures, cortical blindness, and microcephaly syndrome (SCBMS) (MedGen UID: 894797) and autosomal dominant deafness with or without thrombocytopenia (DFNA1) (PMID: 26912466, 28815995).

DICER1

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

DIS3L2

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).

DLAT

The DLAT gene is associated with autosomal recessive pyruvate dehydrogenase E2 (PDHE2) deficiency (MedGen UID: 343386).

DLD

The DLD gene is associated with autosomal recessive dihydrolipoamide dehydrogenase (DLD) deficiency (MedGen UID: 449386).

DLL4
DMD

The DMD gene is associated with X-linked Duchenne Muscular Dystrophy (DMD) (MedGen UID: 3925), Becker Muscular Dystrophy (BMD) (MedGen UID: 182959) and dilated cardiomyopathy 3B (CMD3B) (MedGen UID: 777148).

DMP1
DNAAF1

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

DNAAF2

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

DNAAF3

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

DNAAF4

The DNAAF4 gene, formerly known as DYX1C1, is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 815971).

DNAAF5

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

DNAH1

The DNAH1 gene is associated with autosomal recessive multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 27573432, 27798045). Additionally, the DNAH1 gene has preliminary evidence supporting a correlation with autosomal recessive primary ciliary dyskinesia (PMID: 25927852).

DNAH11

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

DNAH5

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

DNAH8

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

DNAI1

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

DNAI2

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

DNAJC12

The DNAJC12 gene is associated with autosomal recessive hyperphenylalaninemia (MedGen UID: 910649).

DNAJC5

The DNAJC5 gene is associated with autosomal dominant neuronal ceroid lipofuscinosis type 4 (CLN4) (MedGen UID: 320287).

DNAL1

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

DNM1

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

DNM1L

The DNM1L gene is associated with autosomal dominant and autosomal recessive encephalopathy due to defective mitochondrial and peroxisomal fission 1 and autosomal dominant optic atrophy 5 (MedGen UIDs: 482290; 377837).

DNM2

The DNM2 gene is associated with autosomal dominant centronuclear myopathy (DNM2-CNM) (MedGen UID: 322437), dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB) (MedGen UID: 338346) and Charcot-Marie-Tooth disease type 2M (CMT2M) (OMIM: 606482). Additionally, the DNM2 gene has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome 5 (LCCS5) (MedGen UID: 815602).

DNMT3A

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

DOCK6

The DOCK6 gene is associated with autosomal recessive Adams-Oliver syndrome (AOS) (MedGen UID: 481812).

DOCK7

The DOCK7 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) 23 (MedGen UID: 862929).

DPYS

The DPYS gene is associated with autosomal recessive dihydropyrimidinase (DPYS) deficiency (MedGen UID: 83353).

DRC1

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

DYNC1H1

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).

DYNC2H1

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

DYRK1A

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

E
EARS2

The EARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 12 (COXPD12) (MedGen UID: 766993).

EDA

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

EDAR

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

EDARADD

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

EDNRB

The EDNRB gene is associated with autosomal recessive and autosomal dominant Waardenburg syndrome type 4A (WS4A) (MedGen UID: 341244). Additionally, the EDNRB gene has preliminary evidence supporting a correlation with autosomal dominant Hirschsprung disease susceptibility (MedGen UID: 374002).

EED

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).

EEF1A2

The EEF1A2 gene is associated with autosomal dominant early infantile epileptic encephalopathy 33 (EIEE33) (MedGen UID: 897930). Additionally, the EEF1A2 gene has preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy with dilated cardiomyopathy (PMID: 28911200).

EFHC1

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

EGR2

The EGR2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1D (CMT1D) (MedGen UID: 334709) and Charcot-Marie-Tooth disease type 3 (CMT3), also known as Dejerine-Sottas syndrome (MedGen UID: 3710), and autosomal recessive Charcot-Marie-Tooth disease type 4E (CMT4E), also known as congenital hypomyelinating neuropathy (MedGen UID: 1648303).

EHMT1

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

EIF2AK3

The EIF2AK3 gene is associated with autosomal recessive Wolcott-Rallison syndrome (WRS) (MedGen UID: 140926).

EIF2B1

The EIF2B1 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (VWM) (MedGen UID: 347037).

EIF2B2

The EIF2B2 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (VWM) (MedGen UID: 347037).

EIF2B3

The EIF2B3 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (LVWM) (MedGen UID: 347037).

EIF2B4

The EIF2B4 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (MedGen UID: 347037).

EIF2B5

The EIF2B5 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (MedGen UID: 347037).

ELN

The ELN gene is associated with autosomal dominant supravalvular 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).

ELOVL4

The ELOVL4 gene is associated with autosomal dominant Stargardt macular degeneration (STGD) (MedGen UID: 333146), autosomal dominant spinocerebellar ataxia 34 (also known as erythrokeratodermia with ataxia) (MedGen UID: 338703), and autosomal recessive ichthyosis, spastic quadriplegia, and intellectual disability (ISQID) (MedGen UID: 482486).

ENPP1
ENTPD1

The ENTPD1 gene is associated with autosomal recessive spastic paraplegia 64 (SPG64) (MedGen UID: 816619).

EP300

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).

EPCAM

Deletions including exon 9 of the EPCAM gene are known to cause autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer, or HNPCC) (MedGen UID: 412966). EPCAM is also associated with autosomal recessive congenital tufting enteropathy (CTE) (MedGen UID: 413031).

EPG5

The EPG5 gene is associated with autosomal recessive Vici syndrome (MedGen UID: 340962).

EPHA2

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

EPHA4

The EPHA4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atypical cerebral palsy (PMID: 30542205).

EPM2A

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

EPRS

The EPRS gene is associated with autosomal recessive hypomyelinating leukodystrophy (MedGen UID: 1633653).

ERCC2

The ERCC2 gene is associated with autosomal recessive photosensitive trichothiodystrophy (TTD) (MedGen UID: 355730) and xeroderma pigmentosum, group D (XPD) (MedGen UID: 75656). Additionally, the ERCC2 gene has preliminary evidence supporting a correlation with a combined phenotype including both xeroderma pigmentosum and trichothiodystrophy (XP-TTD) (PMID: 11709541) as well as xeroderma pigmentosum and Cockayne syndrome (XP-CS) (PMID: 7825573).

ERCC3

The ERCC3 gene is associated with autosomal recessive xeroderma pigmentosum/Cockayne syndrome (MedGen UID: 373493).

ERCC6

The ERCC6 gene is associated with autosomal recessive Cockayne syndrome B (MedGen UID: 155487) and cerebrooculofacioskeletal syndrome (MedGen UID: 66320).

ERCC8

The ERCC8 gene is associated with autosomal recessive Cockayne syndrome type A (MedGen UID: 155488) and UV-sensitive syndrome (MedGen UID: 766212).

ERF

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

ETFA

The ETFA gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

ETFB

The ETFB gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

ETFDH

The ETFDH gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

ETHE1

ETHE1 is associated with autosomal recessive ethylmalonic encephalopathy (MedGen UID: 355966).

EVC

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).

EVC2

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

EXT1

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

EXT2

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

EYA1

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).

EZH2

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

F
FA2H

The FA2H gene is associated with autosomal recessive fatty acid hydroxylase-associated neurodegeneration (FAHN) (MedGenUID: 777150) and hereditary spastic paraplegia 35 (SPG35) (MedGen UID: 501249).

FAH

The FAH gene is associated with autosomal recessive tyrosinemia type 1 (MedGen UID: 75688).

FAM126A

The FAM126A gene is associated with autosomal recessive hypomyelination and congenital cataracts (HCC) (MedGen UID: 501134).

FAM20C
FARS2

The FARS2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (PMID: 22833457, 25851414, 27652284) and hereditary spastic paraplegia 77 (SPG77) (MedGen UID: 934717).

FARSB

The FARSB gene is associated with autosomal recessive Rajab interstitial lung disease with brain calcifications (RILDBC) (MedGen UID: 462260).

FASN

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).

FASTKD2

The FASTKD2 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).

FBN1

The FBN1 gene is associated with autosomal dominant Marfan syndrome (MedGen UID: 44287), MASS syndrome (MedGen UID: 346932), thoracic aortic aneurysms and dissections (MedGen UID: 468423), isolated ectopia lentis (MedGen UID: 342716), and stiff skin syndrome (MedGen UID: 348877). Other FBN1-related conditions have been reported (OMIM:134797).

FBXL4

The FBXL4 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome 13 (MTDPS13), encephalomyopathic type (MedGen UID: 815922).

FDX2

The FDX2 gene (formerly known as FDX1L) is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 56484).

FGD4

The FGD4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4H (CMT4H) (MedGen UID: 324487).

FGF23
FGFR1

The FGFR1 gene is associated with autosomal dominant Kallmann syndrome 2 (MedGen UID: 289648), craniosynostosis (MedGen UID: 350148), Hartsfield syndrome (MedGen UID: 335111) and osteoglophonic dysplasia (MedGen UID: 96592). Additionally, the FGFR1 gene has preliminary evidence supporting a correlation with autosomal recessive Kallmann syndrome (PMID: 25394172) and Hartsfield syndrome (PMID: 23812909).

FGFR2

The FGFR2 gene is associated with autosomal dominant forms of craniosynostosis including Apert syndrome (MedGen UID: 7858), Crouzon syndrome (MedGen UID: 914990), Jackson-Weiss syndrome (MedGen UID: 208653), Pfeiffer syndrome (MedGen UID: 350148), and Beare-Stevenson syndrome (MedGen UID: 377668); bent bone dysplasia (MedGen UID: 482877); and Lacrimo-Auriculo-Dento-Digital Syndrome (LADD) (MedGen UID: 78545). Additionally, the FGFR2 gene has preliminary evidence supporting a correlation with autosomal recessive ectrodactyly and acinar dysplasia (PMID: 27323706).

FGFR3

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).

FGFRL1

The FGFRL1 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive arthrogryposis (PMID: 31230720).

FH

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, FH has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PMID: 24334767, 25004247). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

FIG4

The FIG4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4J (CMT4J) (MedGen UID: 370808) and Yunis-Varon syndrome (MedGen UID: 341818).

FKRP

The FKRP gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A5 (MDDGA5) (MedGen UID: 461763), type B5 (MDDGB5) (MedGen UID: 335764), and type C5 (MDDGC5) (MedGen UID: 339580).

FKTN

The FKTN gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A4 (MDDGA4), also known as Fukuyama congenital muscular dystrophy (FCMD) (MedGen UID: 140820), type B4 (MDDGB4) (MedGen UID: 413465) and type C4 (MDDGC4) (MedGen UID: 370585).

FLNA

The FLNA gene is associated with X-linked periventricular heterotopia (MedGen UID: 376309) with or without Ehlers-Danlos features (MedGen UID: 375610), otopalatodigital spectrum disorders (MedGen UID: 433163), and cardiac valvular dysplasia (MedGen UID: 78083). Other FLNA-related conditions have also been reported (OMIM: 300017).

FOLR1

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

FOXC1

The FOXC1 gene is associated with autosomal dominant anterior segment dysgenesis (ASD) (MedGen UID: 355748), Axenfeld-Rieger syndrome (ARS) (Medgen UID: 394534) and primary congenital glaucoma (PCG) (PMID: 30653210).

FOXE3

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) and thoracic aortic aneurysm and/or dissection (TAAD) (MedGen UID: 468423).

FOXG1

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

FOXH1

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).

FOXRED1

The FOXRED1 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 19 (MC1DN19) (MedGen UID: 374101).

FRRS1L

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

FTL

The FTL gene is associated with autosomal dominant neurodegeneration with neuroferritinopathy (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 (MedGen UID: 816420).

FUCA1

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

FYCO1

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

G
GAA

The GAA gene is associated with autosomal recessive Pompe disease, also known as glycogen storage disease type II (GSDII) (MedGen UID: 5340).

GABBR2

The GABBR2 gene is associated with autosomal dominant early infantile epileptic encephalopathy (EIEE) (MedGen UID: 1511313) and Rett syndrome (PMID: 28856709).

GABRA1

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).

GABRA2

The GABRA2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with ASD (PMID: 29346770) and early onset epileptic encephalopathy (EOEE) (PMID: 29422393).

GABRA6

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).

GABRB2

The GABRB2 gene is associated with autosomal dominant intellectual disability and epilepsy (PMID: 27622563, 27789573, 29100083).

GABRB3

The GABRB3 gene is associated with autosomal dominant early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934679). Additionally, the GABRB3 gene has preliminary evidence supporting a correlation with autosomal dominant childhood absence epilepsy (CAE), a type of autosomal dominant idiopathic generalized epilepsy (MedGen UID: 393654).

GABRD

The GABRD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to genetic epilepsy with febrile seizures plus (GEFSP), idiopathic generalized epilepsy (EIG), susceptibility to juvenile myoclonic epilepsy (EJM) (PMID: 15115768, 16023832), and Rett syndrome (PMID 25156961).

GABRG2

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).

GAD1

The GAD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spastic quadriplegic cerebral palsy 1 (CPSQ1) (MedGen UID: 442852).

GAL

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).

GALC

The GALC gene is associated with autosomal recessive Krabbe disease (MedGen UID: 44131).

GALK1

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

GALNS

The GALNS gene is associated with autosomal recessive mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A (MedGen UID: 43375).

GALT

The GALT gene is associated with autosomal recessive galactosemia (MedGen UID:344772).

GAMT

The GAMT gene is associated with autosomal recessive guanidinoacetate methyltransferase (GAMT) deficiency (MedGen UID: 154356).

GAN

The GAN gene is associated with autosomal recessive giant axonal neuropathy 1 (GAN1) (MedGen UID: 376775).

GAS8

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

GATA2

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

GATA4

The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (TOF) (MedGen UID: 21498), ventricular septal defects (VSD) (MedGen UID: 482407), atrial septal defects (ASD) (MedGen UID: 334249), and atrioventricular septal defects (AVSD) (MedGen UID: 482411). The GATA4 gene is also associated with autosomal dominant atrial fibrillation (PMID: 21708142). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700), congenital diaphragmatic hernia (PMID: 23138528), and neonatal diabetes (PMID: 24696446).

GATA6

The GATA6 gene is associated with autosomal dominant pancreatic agenesis, with or without other clinical features (PMID: 22158542, 24310933). Additionally, there is preliminary evidence supporting a correlation with isolated congenital heart defects (PMID: 28991257), atrial fibrillation (PMID: 22257684) and diabetes mellitus (PMID: 23223019).

GATM

The GATM gene is associated with autosomal dominant renal Fanconi syndrome with kidney failure (PMID: 29654216) and autosomal recessive cerebral creatine deficiency syndrome due to arginine:glycine amidinotransferase (AGAT) deficiency (MedGen UID: 436367).

GBE1

The GBE1 gene is associated with autosomal recessive glycogen storage disease IV (GSD IV) (MedGen UID: 6642) and autosomal recessive adult polyglucosan body disease (APBD) (MedGen UID: 342338).

GCDH

The GCDH gene is associated with autosomal recessive glutaric acidemia type I (MedGen UID: 124337).

GCH1

The GCH1 gene is associated with autosomal dominant dopa-responsive dystonia (DRD) (MedGen UID: 342121). It is also associated with autosomal recessive GTP cyclohydrolase deficiency (MedGen UID: 75683).

GCNT2

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

GCSH

The GCSH gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

GDAP1

The GDAP1 gene is associated with autosomal recessive and dominant forms of Charcot-Marie-Tooth (CMT) disease (MedGen UID: 347821, 375064, 334012, 375113).

GDF1

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

GDF3

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).

GDF6

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).

GFAP

The GFAP gene is associated with autosomal dominant Alexander disease (MedGen UID: 78724).

GFM1

The GFM1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (COXPD) (MedGen UID: 322999).

GFM2

The GFM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Leigh syndrome (MedGen UID: 941331).

GJA1

The GJA1 gene is associated with autosomal dominant and recessive oculodentodigital dysplasia (ODDD) (MedGen UID: 167236) and autosomal dominant erythrokeratodermia variabilis et progressiva (EKVP) (MedGen UID: 1380593). Additionally, the GJA1 gene has preliminary evidence supporting a correlation with autosomal recessive craniometaphyseal dysplasia (MedGen UID: 419753), autosomal dominant syndactyly type 3 (MedGen UID: 396117), and autosomal dominant structural heart defects (PMID: 7715640).

GJA3

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

GJA8

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

GJB1

The GJB1 gene (also known as Connexin 32 or Cx32) is associated with X-linked Charcot-Marie-Tooth disease type 1X (CMT1X) (MedGen UID: 98290).

GJB6

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).

GJC2

The GJC2 gene is associated with a spectrum of autosomal recessive neurological conditions including hereditary spastic paraplegia 44 (SPG44) (MedGen UID: 413042) and hypomyelinating leukodystrophy 2 (HLD2), which is also referred to as Pelizaeus-Merzbacher-like disease (MedGen UID: 325157). The GJC2 gene is also associated with autosomal dominant hereditary primary lymphedema (MedGen UID: 1652857).

GLA

The GLA gene is associated with X-linked Fabry disease (MedGen UID: 8083).

GLB1

The GLB1 gene is associated with autosomal recessive GM1 gangliosidosis (MedGen UID: 468425) and mucopolysaccharidosis, type IVB (MPS IVB, also known as Morquio B) (MedGen UID: 43376).

GLDC

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

GLI2

The GLI2 gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 324369) and Culler-Jones syndrome (CJS) (MedGen UID: 862916).

GLI3

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).

GLIS2

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

GLRA1

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

GLRB

The GLRB gene is associated with autosomal recessive hyperekplexia 2 (HKPX2) (MedGen UID: 766205).

GLRX5

The GLRX5 gene is associated with autosomal recessive congenital sideroblastic anemia (MedGen UID: 895975). Additionally, the GLRX5 gene has preliminary evidence supporting a correlation with childhood-onset spasticity with hyperglycinemia (MedGen UID: 905660)

GLUL

The GLUL gene is associated with autosomal recessive glutamine synthetase deficiency (PMID: 16267323, 21353613).

GLYCTK

The GLYCTK gene is associated with autosomal recessive D-glyceric aciduria (MedGen UID: 226941).

GM2A

The GM2A gene is associated with autosomal recessive GM2-gangliosidosis, AB variant, also known as GM2 activator deficiency (MedGen UID: 78657).

GNAO1

The GNAO1 gene is associated with an autosomal dominant spectrum of conditions including early infantile epileptic encephalopathy (EIEE) (MedGen UID: 815936) and neurodevelopmental disorder with involuntary movements (NEDIM) (MedGen UID: 1374697).

GNAS
GNB1

The GNB1 gene is associated with autosomal dominant intellectual disability 42 (MedGen UID: 934741).

GNPAT

The GNPAT gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 2 (RCDP2) (MedGen UID: 341734).

GNPTAB

The GNPTAB gene is associated with autosomal recessive mucolipidosis type II alpha/beta (ML II), previously known as I-cell disease or Pacman dysplasia (MedGen UID: 435914), and mucolipidosis type III alpha/beta (ML III), previously known as pseudo-Hurler polydystrophy (MedGen UID: 10988).

GNPTG

The GNPTG gene is associated with autosomal recessive mucolipidosis type III gamma (ML III gamma) (MedGen UID: 340743).

GNS

The GNS gene is associated with autosomal recessive mucopolysaccharidosis type IIID (MPS IIID or Sanfilippo D) (MedGen UID: 88602).

GOSR2

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

GPC3

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

GPHN

The GPHN gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340761) and autosomal dominant GPHN-related spectrum disorder including seizures, autism and intellectual disability (PMID: 23393157). Additionally, the GPHN gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26613940).

GPR88

The GPR88 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive childhood onset chorea with psychomotor impairment (MedGen UID: 934754).

GRHL3

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

GRIN1

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

GRIN2A

The GRIN2A gene is associated with a spectrum of autosomal dominant epileptic encephalopathies, typically presenting as one of the epilepsy-aphasia syndromes (EAS) (MedGen UID: 322043).

GRIN2B

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

GRM7

The GRM7 gene is associated with autosomal recessive leukodystrophy (PMID: 28097321, 27435318). Additionally, the GRM7 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 30315573).

GRN

The GRN gene is associated with autosomal dominant GRN-related frontotemporal dementia (FTD-GRN) (MedGen UID: 375285) and autosomal recessive neuronal ceroid lipofuscinosis type 11 (CLN11) (MedGen UID: 761331).

GTF2H5

The GTF2H5 gene is associated with autosomal recessive trichothiodystrophy (TTD) (MedGen UID: 865608).

GTPBP2

The GTPBP2 gene is associated with autosomal recessive Jaberi-Elahi syndrome (MedGen UID: 1647359).

GUCY2D

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).

GUSB

The GUSB gene is associated with autosomal recessive mucopolysaccharidosis type VII (MPS VII, also known as Sly syndrome) (MedGen UID: 43108).

H
HAND1

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).

HCN1

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

HDAC8

The HDAC8 gene is associated with X-linked Cornelia de Lange syndrome (MedGen UID: 78752) and syndromic intellectual disability (ID) (PMID: 22889856, 29519750).

HEPACAM

The HEPACAM gene is associated with autosomal recessive megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A) (MedGen UID: 462705), and autosomal dominant megalencephalic leukoencephalopathy with subcortical cysts 2B (MLC2B) (MedGen UID: 462706).

HESX1

The HESX1 gene is associated with autosomal recessive and autosomal dominant 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).

HEXA

The HEXA gene is associated with autosomal recessive Tay-Sachs disease, also known as beta-hexosaminidase A (HEXA) deficiency (MedGen UID: 11713).

HGSNAT

The HGSNAT gene is associated with autosomal recessive mucopolysaccharidosis type IIIC (MPS IIIC or Sanfilippo C) (MedGen UID: 39477) and retinitis pigmentosa (RP) (MedGen UID: 907690).

HIBCH

The HIBCH gene is associated with autosomal recessive 3-hydroxyisobutryl-CoA hydrolase (HIBCH) deficiency (MedGen UID: 83349).

HIKESHI

The HIKESHI gene is associated with autosomal recessive hypomyelinating leukodystrophy-13 (HLD13) (MedGen UID: 896545).

HK1

The HK1 gene is associated with autosomal recessive hexokinase deficiency (MedGen UID: 461693) and autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 1386200). Additionally, the HK1 gene has preliminary evidence supporting a correlation with autosomal dominant hexokinase deficiency (PMID: 27282571) and autosomal recessive Charcot-Marie-Tooth 4A (CMT4A) (PMID: 23996628).

HLCS

The HLCS gene is associated with autosomal recessive holocarboxylase synthetase deficiency (MedGen UID: 120653).

HMGCL

The HMGCL gene is associated with autosomal recessive 3-hydroxy-3-methylglutaryl (3HMG)-CoA lyase deficiency (MedGen UID: 78692 ).

HNRNPU

The HNRNPU gene is associated with autosomal dominant early infantile epileptic encephalopathy (PMID: 23934111, 24885232, 22975012, 22678713, 21800092) and autosomal dominant intellectual disability (PMID: 22678713, 25356899).

HPRT1

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

HRAS

The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454). Other HRAS-related conditions have been described (OMIM: 163200, 218040).

HSD17B10

The HSD17B10 gene is associated with X-linked dominant 2-methyl-3-hydroxybutyric aciduria (MedGen UID: 336957).

HSD17B4

The HSD17B4 gene is associated with autosomal recessive D-bifunctional protein (DBP) deficiency (MedGen UID: 137982), and autosomal recessive Perrault syndrome (MedGen UID: 1640257).

HSF4

The HSF4 gene is associated with autosomal dominant and autosomal recessive cataracts (MedGen UID: 78608). Evidence to date suggests loss of function variants in HSF4 may be associated with autosomal recessive cataracts, while a dominant negative mechanism may be associated with autosomal dominant cataracts. The available evidence regarding these associations however, is limited.

HSPD1

The HSPD1 gene is associated with autosomal dominant hereditary spastic paraplegia 13 (SPG13) (MedGen UID: 344289) and autosomal recessive hypomyelinating leukodystrophy 4 (HLD4), also known as MitCHAP60 disease (Medgen UID: 383026).

HTRA1

The HTRA1 gene is associated with autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) (MedGen UID: 325051) and autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 (CADASIL2) (MedGenUID: 895965).

HYAL1

The HYAL1 gene is associated with autosomal recessive mucopolysaccharidosis type IX (MPS IX) (MedGen UID: 226942).

I
IBA57

The IBA57 is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 3