Pediatric Genetics

203 genes

Invitae Comprehensive Deafness Panel

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Genetic testing for genes associated with syndromic and non-syndromic deafness. These are genetically heterogeneous disorders characterized by mild to profound deafness in early adulthood, childhood, or infancy. 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.

9 genes

Invitae Stickler Syndrome Panel

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Genetic testing for genes associated with Stickler syndrome is generally characterized by skeletal, ocular, facial, and audiological abnormalities. These clinical features overlap with other genetic conditions such as Donnai-Barrow syndrome and Wagner syndrome, which are also included in this panel. Stickler syndrome is genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication.

17 genes

Invitae Usher Syndrome Panel

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Genetic testing for genes associated with Usher syndrome, which is generally characterized by partial or total sensorineural hearing loss and vision loss that worsens over time. These clinical features overlap with other genetic syndromes such as Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, & cataract (PHARC), and PEX1- and PEX6-related Zellweger spectrum disorder, which are also included in this panel. Usher syndrome is genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication.

44 genes

Invitae Cystic Kidney Disease Panel

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Genetic testing for genes associated with cystic kidney disease including but not limited to Alport syndrome, focal segmental glomerulosclerosis (FSGS), and nephrotic syndrome. Cystic kidney conditions are genetically heterogeneous disorders representing a spectrum of hereditary renal conditions. 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.

111 genes

Invitae Neonatal Respiratory Distress Panel

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Genetic testing for genes associated with conditions that present with respiratory distress, a common breathing problem in newborns, which is often characterized by rapid, shallow breathing, nasal flaring, chest retractions, or grunting.

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 44 genes

Invitae Primary Ciliary Dyskinesia Panel

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Genetic testing for genes which are associated with primary ciliary dyskinesia (PCD) and cystic fibrosis. These disorders result in respiratory disease, which can include respiratory tract infections, neonatal respiratory distress, and/or other lung-related complications. Additional manifestations of these disorders may include situs inversus or heterotaxy, abnormal sperm motility, or congenital absence of the vas deferens (resulting in male infertility).

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. Of note, this panel includes genes associated with adult-onset neurodegenerative conditions, as well as, some genes that confer risk for both a childhood-onset, autosomal recessive leukodystrophy, and an autosomal dominant increased risk for cancer (i.e. FH, PTEN, SDHA, and SDHB).

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).

134 genes

Invitae Brain Malformations Panel

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Genetic testing for genes associated with brain malformations including holoprosencephaly, lissencephaly, polymicrogyria, cerebral cavernous malformations, and/or cortical, cerebellar, and corpus callosum malformations.

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).

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.

up to 306 genes

Invitae Epilepsy Panel

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The Invitae Epilepsy Panel analyzes genes that are associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent, unprovoked seizures. These genes were curated based on the available evidence to date in order to provide a comprehensive analysis for inherited epilepsy. Given the clinical overlap of different epilepsy conditions, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication.

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.

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 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 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.

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.

53 genes

Invitae Disorders of Sex Development Panel

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Genetic testing for genes associated with disorders of sex development, characterized by atypical gonadal or anatomical sex development often presenting with abnormalities of external genitalia, abnormalities of internal sex organs, hormonal dysregulation and/or infertility.

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.

6 genes

Invitae Alport Syndrome Panel

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Genetic testing for genes associated with Alport syndrome which is generally characterized by renal disease and deafness with possible ocular findings including anterior lenticonus and cataract.

9 genes

Invitae Stickler Syndrome Panel

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Genetic testing for genes associated with Stickler syndrome is generally characterized by skeletal, ocular, facial, and audiological abnormalities. These clinical features overlap with other genetic conditions such as Donnai-Barrow syndrome and Wagner syndrome, which are also included in this panel. Stickler syndrome is genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication.

27 genes

Invitae Glaucoma Panel

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Genetic testing for genes associated with glaucoma, a condition that typically affects both eyes, causes reduced visual acuity and restricted visual fields, and leads to blindness, if untreated. 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.

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 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.

56 genes

Invitae Overgrowth Syndromes Panel

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Genetic testing for genes associated with segmental and/or generalized overgrowth, including macrocephaly. 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.

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 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.

178 genes

Invitae Limb and Digital Malformations Panel

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The Invitae Limb and Digital Malformations Panel analyzes genes that are associated with conditions affecting the limbs and/or digits. These are genetically heterogeneous disorders characterized by abnormal limb and/or digit development or growth. 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.

9 genes

Invitae Stickler Syndrome Panel

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Genetic testing for genes associated with Stickler syndrome is generally characterized by skeletal, ocular, facial, and audiological abnormalities. These clinical features overlap with other genetic conditions such as Donnai-Barrow syndrome and Wagner syndrome, which are also included in this panel. Stickler syndrome is genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication.

320 genes

Invitae Skeletal Disorders Panel

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The Invitae Skeletal Disorders Panel analyzes genes that are associated with conditions affecting the skeletal system. These are genetically heterogeneous disorders characterized by abnormal bone or cartilage development or growth. The genetic heterogeneity associated with these skeletal 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.

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 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.

up to 306 genes

Invitae Epilepsy Panel

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The Invitae Epilepsy Panel analyzes genes that are associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent, unprovoked seizures. These genes were curated based on the available evidence to date in order to provide a comprehensive analysis for inherited epilepsy. Given the clinical overlap of different epilepsy conditions, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication.

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.

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.

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 developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (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).

ABCA3

The ABCA3 gene is associated with a spectrum of autosomal recessive pulmonary diseases, including pulmonary surfactant metabolism dysfunction (MedGen UID: 410074), pediatric interstitial lung disease (PMID: 15976379), and pulmonary fibrosis (PMID: 24730976), and with autosomal dominant cataract-microcornea syndrome (PMID: 25406294).

ABCC9

The ABCC9 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647). Additionally, the ABCC9 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24439875), dilated cardiomyopathy (DCM) (MedGen UID: 325268), and atrial fibrillation (MedGen UID: 334469).

ABCD1

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

ABHD12

The ABHD12 gene is associated with autosomal recessive polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) (MedGen UID: 436373).

ABHD5

The ABHD5 gene is associated with autosomal recessive Chanarin-Dorfman syndrome (CDS) (MedGen UID: 82780).

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).

ACAN

The ACAN gene is associated with a spectrum of autosomal dominant skeletal conditions ranging from nonsyndomic short stature (MedGen UID: 777109) to spondyloepiphyseal dysplasia, Kimberley type (SEDK) (MedGen UID: 330777). Additionally, the ACAN gene has preliminary evidence supporting a correlation with autosomal recessive spondyloepimetaphyseal dysplasia (MedGen UID: 411237).

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).

ACE

The ACE gene is associated with autosomal recessive renal tubular dysgenesis (MedGen UID: 82738).

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). Additionally, the ACTB gene has preliminary evidence supporting a correlation with an autosomal dominant syndrome involving intellectual disability, behavioral and skeletal abnormalities, and microcephaly (PMID: 29220674, 31898838).

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 cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 482865).

ACVR1

The ACVR1 gene is associated with autosomal dominant fibrodysplasia ossificans progressiva (FOP) (MedGen UID: 4698).

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).

ADAMTS10

The ADAMTS10 gene is associated with autosomal recessive Weill-Marchesani syndrome (WMS) (MedGen UID: 358270).

ADAMTS17

The ADAMTS17 gene is associated with autosomal recessive Weill-Marchesani-like syndrome (MedGen UID: 416383).

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).

ADCY1

The ADCY1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive deafness (MedGen UID: 341854).

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).

ADGRV1

The ADGRV1 gene is associated with autosomal recessive Usher syndrome type 2C (MedGen UID: 419359) and retinitis pigmentosa (PMID: 26667666). Additionally, the ADGRV1 gene has preliminary evidence supporting a correlation with autosomal dominant epilepsy (PMID: 29266188).

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 and coarse facies, heart defects, obesity, pulmonary involvement, short stature and skeletal dysplasia) (MedGen UID: 894554).

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 preliminary 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).

AGT

The AGT gene is associated with autosomal recessive renal tubular dysgenesis (RTD) (MedGen UID: 82738).

AGTR1

The AGTR1 gene is associated with autosomal recessive renal tubular dysgenesis (RTD) (MedGen UID: 82738).

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), X-linked spondylometaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) (MedGen UID: 335350) and X-linked deafness-5 (MedGen UID: 335096). In addition, the AIFM1 gene has preliminary evidence supporting a correlation with X-linked combined oxidative phosphorylation deficiency 6 (COXPD6) (MedGen UID: 463103).

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) (MedGen UID: 489979).

AIPL1

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

AK7

The AK7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive male infertility (MedGen UID: 1634748). Other AK7-related conditions have been reported (PMID: 22801010).

AKT1

The AKT1 gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288). AKT1 is also associated with Proteus syndrome (MedGen UID: 39008); however this condition is due to a specific AKT1 variant, c.49G>A, when present as somatic mosaicism.

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).

ALB

The ALB gene is associated with autosomal recessive analbuminemia (MedGen UID: 164210), and autosomal dominant dysalbuminemic hyperthyroxinemia (MedGen UID: 90974).

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).

ALG1

ALG1 is associated with autosomal recessive ALG1-congenital disorder of glycosylation (CDG-Ik) (MedGen UID 332969).

ALG12

The ALG12 gene is associated with autosomal recessive ALG12-congenital disorder of glycosylation (CDG-Ig) (MedGen UID 443954).

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).

ALG6

The ALG6 gene is associated with autosomal recessive ALG6-congenital disorder of glycosylation (CDG-Ic) (MedGen UID 400469).

ALG8

The ALG8 gene is associated with autosomal recessive ALG8-congenital disorder of glycosylation (CDG-Ih) (MedGen UID 374956). Additionally, the ALG8 gene has preliminary evidence supporting a correlation with polycystic liver disease (PMID: 28375157).

ALK

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

ALMS1

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

ALPL

The ALPL gene is associated with autosomal dominant and recessive hypophosphatasia (MedGen UID: 43799).

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).

AMER1

The AMER1 gene is associated with X-linked dominant osteopathia striata with cranial sclerosis (OSCS) (MedGen UID: 96590).

AMH

The AMH gene is associated with autosomal recessive persistent Müllerian duct syndrome (PMDS) (MedGen UID: 342367).

AMHR2

The AMHR2 gene is associated with autosomal recessive persistent Mullerian duct syndrome (MedGen UID: 342367).

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).

ANKH

The ANKH gene is associated with autosomal dominant craniometaphyseal dysplasia (CMD) (MedGen UID: 338945) and chondrocalcinosis (MedGen UID: 163633).

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 (NPHP16) (MedGen UID: 815650).

ANLN

The ANLN gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 863430). Additionally, the ANLN gene has preliminary evidence supporting a correlation with autosomal dominant branchio‐otic syndrome (PMID: 30548429).

ANO5

The ANO5 gene is associated with autosomal dominant gnathodiaphyseal dysplasia (GDD) (MedGen UID: 331575). The ANO5 gene is also associated with autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) (MedGen UID: 370102) and Miyoshi muscular dystrophy 3 (MMD3) (MedGen UID: 413750).

ANOS1

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

AP1S2

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

AP2M1

The AP2M1 gene is associated with autosomal dominant intellectual disability and epilepsy (MedGen UID: 1684702).

AP3B2

The AP3B2 gene is associated with autosomal recessive early infantile epileptic encephalopathy with cerebellar atrophy (MedGen UID: 934604).

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 (SBMA) (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).

ARFGEF2

The ARFGEF2 gene is associated with autosomal recessive periventricular heterotopia (MedGen UID: 334110).

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 preliminary 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).

ARID1A

The ARID1A gene is associated with autosomal dominant Coffin-Siris syndrome (MedGen UID: 766161).

ARID1B

The ARID1B gene is associated with autosomal dominant Coffin-Siris syndrome (MedGen UID: 482831).

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) non-syndromic retinitis pigmentosa (RP) (MedGen UID: 462158).

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 ARSL gene, also known as ARSE, is associated with X-linked recessive chondrodysplasia punctata (MedGen UID: 337102).

ARSG

The ARSG gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Usher syndrome (PMID: 26975023, 29300381).

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).

ASAH1

The ASAH1 gene is associated with autosomal recessive acid ceramidase deficiency, also known as Farber lipogranulomatosis or Farber disease (MedGen UID: 78654), distal osteolysis (PMID: 26945816), polyarticular arthritis and SMA (PMID: 27650050), and spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME), also known as Jankovic Rivera syndrome (MedGen UID: 371854).

ASCC1

The ASCC1 gene is associated with autosomal recessive spinal muscular atrophy with congenital bone fractures 2 (SMABF2) (MedGen UID: 907910).

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).

ASPM

The ASPM gene is associated with autosomal recessive primary microcephaly (MedGen UID: 373344).

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 possibly prostate cancer (PMID: 27989354, 28657667) in addition to autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439). There is also preliminary evidence suggesting ATM is associated with autosomal dominant predisposition to other cancer types including stomach (PMID: 30657113), ovarian (PMID: 28888541, 30733081), bladder (PMID: 26662178, 31844177) and colon (PMID: 30862463); although available evidence is insufficient to make a determination regarding these relationships.

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 type 2 (FHM2) (MedGen UID: 355962), alternating hemiplegia of childhood type 1 (AHC1) (MedGen UID: 762361) and autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (PMID: 27864847). Additionally, the ATP1A2 gene has preliminary evidence supporting a correlation with autosomal dominant hypokalemic periodic paralysis (PMID: 30423015).

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).

ATP2B2

The ATP2B2 gene is associated with autosomal dominant nonsyndromic deafness (MedGen UID: 330455). Additionally, the ATP2B2 gene has preliminary evidence supporting a correlation with an autosomal dominant intellectual disability syndrome with ataxia and brain abnormalities (PMID: 29655659) as well as an association with autosomal dominant autism (PMID: 29346770, 25363768).

ATP6AP2

The ATP6AP2 gene is associated with X-linked intellectual disability with epilepsy (MRXE) (MedGen UID: 337257) and glycosylation disorder with immunodeficiency, liver disease, psychomotor impairment and cutis laxa (GILPC) (PMID: 29127204). Additionally, the ATP6AP2 gene has preliminary evidence supporting a correlation with X-linked Parkinsonism with spasticity (PMID: 23595882, 26467484) and an infantile neurodegenerative condition (PMID: 30985297).

ATP6V0A2

ATP6V0A2 is associated with autosomal recessive ATP6V0A2-associated cutis laxa type 2 (ATP6V0A2-CDG) (MedGen UID 324794).

ATP6V1B1

The ATP6V1B1 gene is associated with autosomal recessive distal renal tubular acidosis (dRTA) with progressive nerve deafness (MedGen UID: 98336).

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).

ATR

The ATR gene is associated with autosomal recessive Seckel syndrome 1 (MedGen UID: 830512). Additionally, there is preliminary evidence that ATR is associated with autosomal dominant predisposition to prostate (PMID: 27433846) and oropharyngeal cancer (PMID: 22341969). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

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).

B3GLCT

The B3GLCT gene is associated with autosomal recessive Peters-plus syndrome also known as B3GLCT-congenital disorder of glycosylation (Medgen UID: 163204).

B4GALT7

The B4GALT7 gene is associated with autosomal recessive Ehlers-Danlos syndrome (EDS), spondylodysplastic type 1 (MedGen UID: 1646889).

B4GAT1

The B4GAT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A13 (MDDGA13) (MedGen UID: 815372).

B9D1

The B9D1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 934673).

B9D2

The B9D2 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

BAP1

The BAP1 gene is associated with autosomal dominant BAP1 tumor predisposition syndrome (MedGen UID: 482122). There is additional evidence to suggest BAP1 is associated with risk of meningioma (PMID: 26140217, 21941004). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

BBIP1

The BBIP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome 18 (BBS18) (MedGen UID: 807640).

BBS1

The BBS1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422452) and non-syndromic retinitis pigmentosa (PMID: 23143442, 27032803, 21520335).

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) and non-syndromic retinitis pigmentosa (RP) (MedGen UID: 906896).

BBS4

The BBS4 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 423627). Additionally, the BBS4 gene has preliminary evidence supporting a correlation with autosomal recessive inherited retinal disease (PMID: 22219648, 26355662).

BBS5

The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 856141). Additionally, the BBS5 gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic retinitis pigmentosa (PMID: 24154662, 28041643).

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). Additionally, the BBS9 gene has preliminary evidence supporting a correlation with autosomal recessive macular dystrophy (PMID: 28981474).

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: 814437).

BFSP2

The BFSP2 gene is associated with autosomal dominant and recessive congenital cataracts (MedGen UID: 814445, PMID: 21836522, 22935719).

BGN

The BGN gene is associated with X-linked spondyloepimetaphyseal dysplasia (SEMD) (MedGen UID: 376281) and X-linked thoracic aortic aneurysm and dissection (TAAD), with or without additional features, also known as Meester-Loeys syndrome (MedGen UID: 934778).

BHLHA9

The BHLHA9 gene is associated with autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction (MedGen UID: 324459). Additionally, the BHLHA9 gene has preliminary evidence supporting a correlation with autosomal recessive complex camptosynpolydactyly (MedGen UID: 375276).

BICC1

The BICC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with cystic renal dysplasia (PMID: 21922595, 28566479).

BLM

The BLM gene is associated with autosomal recessive Bloom syndrome (MedGen UID: 2685). Studies have suggested BLM may also be associated with an increased risk for autosomal dominant predisposition to colorectal cancer (PMID: 12242432, 26358404, 12702560, 18210922). The evidence, however, is preliminary and insufficient to make a determination regarding this relationship.

BMP1

The BMP1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 766801).

BMP2

The BMP2 gene is associated with autosomal dominant short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (MedGen UID: 1635916). Additionally, the BMP2 gene has preliminary evidence supporting a correlation with autosomal dominant brachydactyly type A2 (MedGen UID: 318690).

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).

BMPER

The BMPER gene is associated with autosomal recessive diaphanospondylodysostosis (MedGen UID: 374993).

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) and autosomal dominant brachydactyly (MedGen UID: 318690). Additionally, the BMPR1B gene has preliminary evidence supporting a correlation with autosomal dominant 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 autosomal dominant Noonan syndrome (MedGen UID: 462320), Noonan syndrome with Multiple Lentigines (NSML) (MedGen UID: 462321) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 852267).

BRAT1

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

BRWD3

The BRWD3 gene is associated with X-linked intellectual disability (MedGen UID: 410164).

BSND

The BSND gene is associated with autosomal recessive Bartter syndrome type 4a (BARTS4A) (MedGen UID: 355430) and non-syndromic deafness (PMID: 19646679, 24949729).

BTD

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

BTRC

The BTRC gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant split hand/foot malformation (PMID: 27600068).

C
C11orf70

The CFAP300 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 1648465).

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).

C2CD3

The C2CD3 gene is associated with autosomal recessive oral-facial-digital syndrome type 14 (OFD14) (MedGen UID: 799885) and Joubert syndrome (PMID: 26477546, 2692869).

C8orf37

The C8orf37 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 482675) and retinitis pigmentosa (RP) (MedGen UID: 20551). Additionally, the C8orf37 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet Biedl syndrome (BBS) (PMID: 27008867).

CA2

The CA2 gene is associated with autosomal recessive carbonic anhydrase 2 (CA2) deficiency (MedGen UID: 91042).

CABP2

The CABP2 gene is associated with autosomal recessive deafness (MedGen UID: 854875).

CACNA1A

The CACNA1A gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as 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.

CACNA1C

The CACNA1C gene is associated with autosomal dominant Timothy syndrome (TS), also known as long QT syndrome (LQTS), type 8 (MedGen UID: 331395). The CACNA1C gene has also been associated with a combination of LQTS, hypertrophic cardiomyopathy (HCM) and congenital heart defects (PMID: 26253506). Additionally, the CACNA1C gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome and short QT syndrome (SQTS) (PMID: 17224476).

CACNA1D

The CACNA1D gene is associated with autosomal recessive sinoatrial node dysfunction and deafness (MedGen UID: 766932) and autosomal dominant primary aldosteronism with seizures and neurologic abnormalities (PASNA) (MedGen UID: 815939). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 25620733, 22495309, 22542183).

CACNA1E

The CACNA1E gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 1648381).

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 cerebellar atrophy with seizures and variable developmental delay (CASVDD) (MedGen UID: 944061).

CACNB4

The CACNB4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (MedGen UID: 413424) and episodic ataxia, type 5 (EA5) (MedGen UID: 356142).

CAD

The CAD gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 904125). Additionally, the CAD gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder with abnormal glycosylation, and congenital heart disease with neurodevelopmental disability (PMID: 25678555, 28191890, 26785492).

CAMK2B

The CAMK2B gene is associated with autosomal dominant intellectual disability (MedGen UID: 1614787).

CANT1

The CANT1 gene is associated with autosomal recessive Desbuquois dysplasia (MedGen UID: 98479).

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 a spectrum of X-linked conditions including intellectual disability (ID) (MedGen UID: 411367), FG syndrome 4 (FGS4) (MedGen UID: 336965 ), 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). The evidence, however, is insufficient to make a determination regarding these relationships.

CBL

The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID: 462153). Additionally, the CBL gene has preliminary evidence supporting a correlation with autosomal dominant cerebral arteriopathy (PMID: 32637631).

CBS

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

CBX2

The CBX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive 46,XY sex reversal (PMID: 19361780).

CC2D2A

The CC2D2A gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322) and autosomal recessive retinal dystrophy (PMID: 30267408).

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 (PCD) (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).

CCDC50

The CCDC50 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant deafness 44 (MedGen UID: 334525).

CCDC65

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

CCDC8

The CCDC8 gene is associated with autosomal recessive 3-M syndrome (MedGen UID: 481776).

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).

CCND2

The CCND2 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 863179).

CCNO

The CCNO gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 862971).

CCNQ

The CCNQ gene (formerly known as FAM58A) is associated with X-linked dominant STAR syndrome (MedGen UID: 394424).

CD151

The CD151 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephropathy with pretibial epidermolysis bullosa and deafness (MedGen UID: 323004).

CD164

The CD164 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant deafness (MedGen UID: 924418, PMID: 26197441).

CD40

The CD40 gene is associated with autosomal recessive hyper IgM syndrome (HIGM) (MedGen UID: 328419).

CD40LG

The CD40LG gene is associated with X-linked hyper-IgM syndrome (HIGM) (MedGen UID: 96019).

CDC14A

The CDC14A gene is associated with autosomal recessive deafness (MedGen UID: 373370).

CDC45

The CDC45 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 934705).

CDC6

The CDC6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 462476).

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. There are data suggesting CDC73 may also be associated with autosomal dominant predisposition to malignant uterine tumors (PMID: 23293331, 12434154, 23029104). The evidence, however, is preliminary and insufficient to make a determination regarding this relationship.

CDH23

The CDH23 gene is associated with autosomal recessive Usher syndrome type I (USH1) (MedGen UID: 322051) and autosomal recessive deafness (MedGen UID: 330455).

CDH3

The CDH3 gene is associated with autosomal recessive congenital hypotrichosis with juvenile macular dystrophy (HJMD) (MedGen UID: 316921) and ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) (MedGen UID: 341679). Additionally, the CDH3 gene has preliminary evidence supporting a correlation with autosomal recessive isolated retinitis pigmentosa (PMID: 26306921).

CDK5

The CDK5 gene is associated with autosomal recessive lissencephaly with cerebellar hypoplasia (MedGen UID: 895680).

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 (BWS) (MedGen UID: 2562) and IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) (MedGen UID: 337364).

CDON

The CDON gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 481845).

CDT1

The CDT1 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 462470).

CEACAM16

The CEACAM16 gene is associated with autosomal dominant deafness (MedGen UID: 482927) and autosomal recessive deafness (MedGen UID: 941379).

CEBPA

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

CENPJ

The CENPJ gene is associated with autosomal recessive primary microcephaly 6 (MCPH6) (MedGen UID: 330770) and Seckel syndrome 4 (SCKL4) (MedGen UID: 442100).

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 (MedGen UID: 1618082) and short-rib thoracic dysplasia with or without polydactyly (SRTD) (MedGen UID: 898712).

CEP135

The CEP135 gene is associated with autosomal recessive primary microcephaly and Seckel syndrome spectrum disorders (MedGen UID: 766328).

CEP152

The CEP152 gene is associated with autosomal recessive Seckel syndrome (MedGen UID: 462537).

CEP164

The CEP164 gene is associated with a spectrum of autosomal recessive conditions including nephronophthisis (MedGen UID: 762112) and Senior Loken syndrome (PMID: 22863007).

CEP19

The CEP19 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 816654).

CEP250

The CEP250 gene is associated with autosomal recessive Usher syndrome (PMID: 24780881).

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).

CEP63

The CEP63 gene is associated with autosomal recessive Seckel syndrome (MedGen UID: 766496). Additionally, the CEP63 gene has preliminary evidence supporting a correlation with developmental dyslexia (PMID: 26400686).

CEP78

The CEP78 gene is associated with autosomal recessive cone-rod dystrophy (CRD) with sensorineural deafness (MedGen UID: 934624).

CEP83

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

CEP89

The CEP89 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency (PMID: 24038936) and polycystic kidney disease (PMID: 29527510).

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

The CFAP410 gene (formerly known as C21orf2) is associated with autosomal recessive retinal dystrophy (MedGen UID: 1381980) and axial spondylometaphyseal dysplasia (SMDAX) (MedGen UID: 356065).

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).

CHD4

The CHD4 gene is associated with autosomal dominant Sifrim-Hitz-Weiss syndrome (MedGen UID: 934655).

CHD7

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

CHD8

The CHD8 gene is associated with an autosomal dominant syndrome involving overgrowth, intellectual disability, and susceptibility to autism (MedGen UID: 767287).

CHM

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

CHMP1A

The CHMP1A gene is associated with autosomal recessive pontocerebellar hypoplasia type 8 (PCH8) (MedGen UID: 767123).

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 is associated with autosomal dominant congenital cataracts (MedGen UID: 343089).

CHRNA1

The CHRNA1 gene is associated with autosomal dominant and recessive forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 903294, 909200). Additionally, the CHRNA1 gene has preliminary evidence supporting a correlation with autosomal recessive lethal multiple pterygium syndrome (LMPS) (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).

CHSY1

The CHSY1 gene is associated with autosomal recessive temtamy preaxial brachydactyly syndrome (TPBS) (MedGen UID: 381425).

CHUK

The CHUK gene is associated with autosomal recessive cocoon syndrome (MedGen UID: 462241).

CIB2

The CIB2 gene is associated with autosomal recessive non-syndromic deafness (MedGen UID: 332149). Additionally, the CIB2 gene has preliminary evidence supporting a correlation with autosomal recessive Usher syndrome, type I (USH1) (MedGen UID: 766858).

CISD2

The CISD2 gene is associated with autosomal recessive Wolfram syndrome 2 (WFS2) (MedGen UID: 347604).

CKAP2L

The CKAP2L gene is associated with autosomal recessive Filippi syndrome (MedGen UID: 163197).

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
CLCN6

The CLCN6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with benign partial epilepsy (PMID: 25794116).

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).

CLDN14

The CLDN14 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 481290).

CLIC5

The CLIC5 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal recessive nonsyndromic deafness (MedGen UID: 863487).

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).

CLRN1

The CLRN1 gene is associated with autosomal recessive Usher syndrome type III (USH3) (MedGen UID: 339336) and retinitis pigmentosa (RP) (MedGen UID: 481671).

CLTC

The CLTC gene is associated with autosomal dominant intellectual disability (MedGen UID: 1638835). Additionally, the CLTC gene has preliminary evidence supporting a correlation with autosomal dominant atypical Rett syndrome (PMID: 28856709).

CNTN2

The CNTN2 gene is associated with autosomal recessive myoclonic epilepsy (MedGen UID: 815704).

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).

COCH

The COCH gene is associated with autosomal dominant nonsyndromic deafness (MedGen UID: 371327) and autosomal recessive nonsyndromic deafness (MedGen UID: 1648377).

COG1

COG1 is associated with autosomal recessive COG1-congenital disorder of glycosylation (CDG-IIg) (MedGen UID 409970).

COG5

COG5 is associated with autosomal recessive COG5-congenital disorder of glycosylation (CDG-IIi) (MedGen UID 462226).

COL10A1

The COL10A1 gene is associated with autosomal dominant metaphyseal chondrodysplasia, Schmid type (MCDS) (MedGen UID: 78550).

COL11A1

The COL11A1 gene is associated with autosomal dominant Stickler syndrome (MedGen UID: 347615) and autosomal dominant Marshall syndrome (MRSHS) (MedGen UID: 82694), which is considered to be a phenotypic variant of Stickler syndrome by some experts (PMID: 10486316, 17236192). COL11A1 is also associated with autosomal recessive fibrochondrogenesis (MedGen UID: 82700) as well as autosomal recessive forms of Stickler and Marshall syndromes (PMID: 22499343, 23922384).

COL11A2

The COL11A2 gene is associated with a spectrum of related autosomal recessive conditions including otospondylomegaepiphyseal dysplasia (OSMED) (MedGen UID: 140925), non-syndromic hearing loss (MedGen UID: 400602) and fibrochondrogenesis (MedGen UID: 482758). Additionally the COL11A2 gene has preliminary evidence supporting a correlation with a spectrum of related autosomal dominant conditions including Stickler syndrome III (MedGen UID: 349293), Weissenbacher-Zweymüller syndrome (MedGen UID: 341234) and non-syndromic hearing loss (MedGen UID: 400917).

COL18A1

The COL18A1 gene is associated with autosomal recessive Knobloch syndrome (MedGen UID: 1642123).

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). Additionally, the COL1A1 gene has preliminary evidence supporting a correlation with autosomal recessive Ehlers-Danlos syndrome (PMID: 27023906).

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) and autosomal recessive osteogenesis imperfecta (PMID: 29572562).

COL27A1

The COL27A1 gene is associated with autosomal recessive Steel syndrome (MedGen UID: 767508).

COL2A1

The COL2A1 gene is associated with a spectrum of autosomal dominant related conditions including achondrogenesis type II (MedGen UID: 66315), avascular necrosis of the femoral head (MedGen UID: 1639295), Legg-Calve-Perthes disease (MedGen UID: 6035), multiple forms of skeletal dysplasia (MedGen UID: 324580, 75559, 331974, 387979, 163223, 147134, 412530, 905084) and Stickler syndrome, type I (MedGen UID: 810955); and autosomal recessive spondyloepiphyseal dysplasia congenita (PMID: 25060605, 26358419, 26626311). Additionally, the COL2A1 gene has preliminary evidence supporting a correlation with other forms of autosomal dominant skeletal dysplasia (MedGen UID: 377049, 140925; PMID: 12205109).

COL3A1

The COL3A1 gene is associated with autosomal dominant vascular Ehlers-Danlos syndrome (EDS, type 4) (MedGen UID: 82790) and autosomal recessive polymicrogyria with or without vascular EDS (MedGen UID: 941269).

COL4A1

The COL4A1 gene is associated with a spectrum of overlapping autosomal dominant conditions including brain small vessel disease with or without ocular anomalies (BSVD1) (MedGen UID: 1647320), which is sometimes referred to as porencephaly, hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) (MedGen UID: 382033), tortuosity of retinal arteries (RATOR) (MedGen UID: 356748), and pontine microangiopathy and leukoencephalopathy (PADMAL) (MedGen UID: 1684781).

COL4A2

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

COL4A3

The COL4A3 gene is associated with autosomal recessive and autosomal dominant Alport syndrome (MedGen UID: 1648334, 1648326).

COL4A4

The COL4A4 gene is associated with autosomal recessive and autosomal dominant Alport syndrome (MedGen UID: 1648334, PMID: 26809805).

COL4A5

The COL4A5 gene is associated with X-linked Alport syndrome (MedGen UID: 1648433).

COL4A6

The COL4A6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked deafness (PMID: 23714752).

COL9A1

The COL9A1 gene is associated with autosomal recessive Stickler syndrome, type IV (MedGen UID: 481571). Additionally, the COL9A1 gene has preliminary evidence supporting a correlation with dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 436517).

COL9A2

The COL9A2 gene is associated with autosomal recessive Stickler syndrome (MedGen UID: 481972) and autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 333092). Additionally, the COL9A2 gene has preliminary evidence supporting a correlation with susceptibility to intervertebral disc disease (PMID: 10411504).

COL9A3

The COL9A3 gene is associated with autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 322091), and autosomal recessive Stickler syndrome (PMID: 24273071). Additionally, the COL9A3 gene has preliminary evidence supporting a correlation with intervertebral disc disorder (IDD) (MedGen UID: 57852), pseudoachondroplasia (PMID: 11968079, 21922596), and autosomal dominant deafness (PMID: 15917166).

COMP

The COMP gene is associated with autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 325376) and pseudoachondroplasia (PSACH) (MedGen UID: 98378).

COPA

The COPA gene is associated with autosomal dominant autoimmune interstitial lung, joint, and kidney disease (AILJK) (MedGen: 452265).

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 (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).

CRADD

The CRADD gene is associated with autosomal recessive “thin” lissencephaly (TLIS) and intellectual disability (MedGen UID: 482674).

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 (LCA)(MedGen UID: 462552), retinitis pigmentosa (RP)(MedGen UID: 374019), cone-rod dystrophy (CRD)(PMID: 26957898, 23767994), and macular dystrophy (PMID: 24811962, 29391521).

CRB2

The CRB2 gene is associated with autosomal recessive focal segmental glomerulosclerosis (MedGen UID: 863992).

CREB3L1
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 (LCA) (MedGen UID: 462542) and autosomal recessive Leber congenital amaurosis (LCA) (PMID: 24265693, 30557390). Additionally, the CRX gene is associated with autosomal dominant cone-rod dystrophy (CRD) (MedGen UID: 483485).

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 and recessive cataracts (MedGen UID: 814707). It is also associated with autosomal dominant and recessive myofibrillar myopathy 2 (MFM2) (MedGen UID: 324735). Additionally, the CRYAB gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 767563).

CRYBA1

The CRYBA1 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 318817). Additionally, the CRYBA1 gene has preliminary evidence supporting a correlation with autosomal recessive congenital cataracts (PMID: 26622071, 25148791).

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: 854781).

CRYBB2

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

CRYBB3

The CRYBB3 gene is associated with autosomal dominant congenital cataracts (PMID: 23508780) and autosomal recessive congenital cataracts (MedGen UID: 341862).

CRYGB

The CRYGB gene currently has no well-established disease association; however, there is preliminary 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: 761925).

CRYGS

The CRYGS gene is associated with autosomal dominant congenital cataracts (MedGen UID: 811740).

CRYM

The CRYM gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant deafness (PMID: 12471561, 16740909).

CSF1R

The CSF1R gene is associated with autosomal dominant hereditary diffuse leukoencephalopathy with spheroids (HDLS) (MedGen UID: 777989) and autosomal recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) (MedGen UID: 1678789).

CSF2RA

The CSF2RA gene is associated with X-linked primary pulmonary alveolar proteinosis (PAP) (MedGen ID: 393858). Of note, CSF2RA is located in the pseudoautosomal region of the X chromosome; therefore PAP-related CSF2RA variants are inherited in an autosomal recessive fashion in both males and females (PMID: 20622029, 25425184).

CSF2RB

The CSF2RB gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive pulmonary alveolar proteinosis (PAP) (MedGen UID: 482204).

CSGALNACT1

The CSGALNACT1 gene is associated with an autosomal recessive skeletal dysplasia (PMID: 27599773, 31325655).

CSPP1

The CSPP1 gene is associated with with autosomal recessive Joubert syndrome (MedGen UID: 934673) and short-rib thoracic dystrophy (SRTD) (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).

CTSK

The CTSK gene is associated with autosomal recessive pycnodysostosis (MedGen UID: 116061).

CUL4B

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

CUL7

The CUL7 gene is associated with autosomal recessive 3-M syndrome (MedGen UID: 336440).

CWC27

The CWC27 gene is associated with autosomal recessive retinitis pigmentosa with or without skeletal anomalies (RPSKA) (MedGen UID: 381579).

CXCR4

The CXCR4 gene is associated with autosomal dominant warts, hypogammaglobulinemia, infections, and myelokathexis syndrome (WHIMS) (MedGen UID: 96875).

CYB5A

The CYB5A gene is associated with autosomal recessive methemoglobinemia and ambiguous genitalia (MedGen UID: 925090).

CYFIP2

The CYFIP2 gene is associated with autosomal dominant intellectual disability, developmental delay, muscular hypotonia and epilepsy (MedGen UID: 483052).

CYP11A1

The CYP11A1 gene is associated with autosomal recessive congenital adrenal insufficiency (MedGen UID: 1643960).

CYP11B1

The CYP11B1 gene is associated with autosomal recessive congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (MedGen UID: 202010) and autosomal dominant familial hyperaldosteronism type I (FH-I) (MedGen UID: 224694).

CYP17A1

The CYP17A1 gene is associated with autosomal recessive congenital adrenal hyperplasia (CAH) (MedGen UID: 82782) and isolated 17, 20-lyase deficiency (MedGen UID: 925090).

CYP19A1
CYP1B1

The CYP1B1 gene is associated with autosomal recessive primary congenital glaucoma 3A (GLC3A) (MedGen UID: 383912), and juvenile- and adult-onset primary open-angle glaucoma (POAG) (MedGen UID: 331409). Additionally, the CYP1B1 gene has preliminary evidence supporting a correlation with autosomal recessive Peters anomaly (PMID: 11403040, 24281366).

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) and 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) and neonatal sclerosing cholangitis (NSC) (MedGen: 1393230). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 25601850).

DCHS1

The DCHS1 gene is associated with autosomal dominant mitral valve prolapse (MedGen UID: 335856) and autosomal recessive Van Maldergem syndrome (MedGen UID: 1644627).

DCX

The DCX gene is associated with X-linked lissencephaly and subcortical band heterotopia (SBH) (MedGen UID: 1644310).

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).

DDR2

The DDR2 gene is associated with autosomal recessive spondylometaepiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) (MedGen UID: 338595).

DDRGK1

The DDRGK1 gene is associated with autosomal recessive spondyloepimetaphyseal dysplasia (MedGen UID: 400703).

DDX3X

The DDX3X gene is associated with an X-linked intellectual disability syndrome (MedGen UID: 897961).

DDX59

The DDX59 gene is associated with autosomal recessive oral-facial-digital syndrome (OFD) (MedGen UID: 358131).

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).

DFNA5

The DFNA5 gene is associated with autosomal dominant deafness (MedGen UID: 331398).

DFNB59

The PJVK gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 387899).

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).

DHCR24

The DHCR24 gene is associated with autosomal recessive desmosterolosis (MedGen UID: 400801).

DHCR7

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

DHDDS

The DHDDS gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462577) and autosomal dominant developmental and epileptic encephalopathy syndrome (MedGen UID: 1641343). In addition, there is preliminary evidence supporting a correlation with DHDDS-congenital disorder of glycosylation (CDG-Ibb) (PMID: 27343064).

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).

DHODH

The DHODH gene is associated with autosomal recessive Miller syndrome (MedGen UID: 120522).

DIABLO

The DIABLO gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant deafness (PMID: 21722859; MedGen UID: 481578).

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).

DIAPH3

The DIAPH3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant auditory neuropathy (MedGen UID: 322984) and a spectrum of autosomal dominant neurodevelopmental conditions (PMID: 20308993, 31191202).

DICER1

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

DIP2C

The DIP2C gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autism spectrum disorder (PMID: 28263302, 22542183, 25363768) and autosomal recessive skeletal dysplasia (PMID: 29620724).

DIS3L2

The DIS3L2 gene is associated with autosomal recessive Perlman syndrome (MedGen UID: 162909). Additionally, DIS3L2 has preliminary evidence supporting a correlation with autosomal dominant predisposition to non-syndromic Wilms tumor; however, the available evidence is insufficient to make a determination regarding this relationship (PMID: 25670083).

DISP1

The DISP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and autosomal recessive holoprosencephaly (HPE) (PMID: 28640243, 19184110, 26748417).

DKC1

The DKC1 gene is associated with X-linked dyskeratosis congenita spectrum disorders (DC) (MedGen UID: 216941).

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).

DLL1

The DLL1 gene is associated with an autosomal dominant neurodevelopmental disorder with brain malformations (MedGen UID: 946090). Additionally, the DLL1 gene has preliminary evidence supporting a correlation with autosomal recessive spondylocostal dysostosis (PMID: 31275352, 26801181).

DLL3

The DLL3 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 834049).

DLL4
DLX3

The DLX3 gene is associated with autosomal dominant trichodentoosseous syndrome (TDO) (MedGen UID: 78555). Additionally, the DLX3 gene has preliminary evidence supporting a correlation with autosomal dominant amelogenesis imperfecta (PMID: 15666299, 9874789).

DLX5

The DLX5 gene is associated with autosomal dominant split-hand/foot malformation (MedGen UID: 419314).

DLX6

The DLX6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant split-hand/foot malformation type 1 (PMID: 28611547).

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
DMRT1

The DMRT1 gene is associated with autosomal dominant 46,XY gonadal dysgenesis (PMID: 22573722, 20685758, 27711951).

DMRT2

The DMRT2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spondylocostal dysostosis (PMID: 29681102)

DMXL2

The DMXL2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 945899). Additionally, the DMXL2 gene has preliminary evidence supporting a correlation with autosomal dominant deafness (MedGen UID: 1621646), as well as a spectrum of autosomal dominant and recessive neurodevelopmental disorders (PMID: 25248098, 28191890, 28856709).

DNA2

The DNA2 gene is associated with autosomal dominant progressive external ophthalmoplegia (PEO) with mitochondrial deletions (MedGen UID: 767513) and autosomal recessive Seckel syndrome (SCKL) (MedGen UID: 786079).

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) and 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 (PMID: 24307375).

DNAH9

The DNAH9 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 1648365).

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).

DNAJB11

The DNAJB11 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant polycystic kidney disease (PMID: 29706351).

DNAJB13

THE DNAJB13 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 934689).

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).

DNMT1

The DNMT1 gene is associated with autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) (MedGen UID: 813625) and hereditary sensory neuropathy type 1E (HSN1E) (MedGen UID: 481515).

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).

DONSON

The DONSON gene is associated with autosomal recessive microcephaly-micromelia syndrome (MedGen UID: 381553).

DPF2

The DPF2 gene is associated with autosomal dominant Coffin-Siris syndrome (CSS) (MedGen UID: 1648281).

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).

DSPP

The DSPP gene is associated with a spectrum of autosomal dominant dentin defects (MedGen UID: 424922, 96026, 97995). Additionally, the DSPP gene has preliminary evidence supporting a correlation with non-syndromic deafness (PMID: 29741433, 30682115).