New York Approved Neurology

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

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

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

Clinical Area: Cardiology and Neurology

up to 23 genes

Invitae Dystonia Comprehensive Panel

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Genetic testing for up to 23 genes associated with dystonia, including the most commonly causative genes.

up to 18 genes

Invitae Hereditary Parkinson's Disease and Parkinsonism Panel

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Genetic testing for up to 18 genes associated with Parkinson's disease (PD) and other forms of hereditary parkinsonism. This test covers the most common causative genes for hereditary PD (LRRK2, PARK7, PINK1, PRKN, and SNCA).

up to 28 genes

Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel

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Genetic testing for up to 28 genes associated with dominant, recessive, and X-linked forms of dementia and ALS. This test does not include analysis of the C9orf72 gene.

up to 20 genes

Invitae Amyotrophic Lateral Sclerosis Panel

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Genetic testing for up to 20 genes associated with dominant, recessive, and X-linked forms of ALS. This test does not include analysis of the C9orf72 gene.

up to 13 genes

Invitae Frontotemporal Dementia Panel

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Genetic testing for up to 13 genes associated with autosomal dominant and X-linked FTD. This test does not include analysis of the C9orf72 gene.

3 genes

Invitae Hereditary Alzheimer's Disease Panel

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Genetic testing for the 3 genes most commonly associated with hereditary Alzheimer’s disease.

up to 18 genes

Invitae Hereditary Parkinson's Disease and Parkinsonism Panel

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Genetic testing for up to 18 genes associated with Parkinson's disease (PD) and other forms of hereditary parkinsonism. This test covers the most common causative genes for hereditary PD (LRRK2, PARK7, PINK1, PRKN, and SNCA).

1 gene

Invitae Hereditary Prion Disease Test

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Genetic testing for the PRNP gene, which is the only known cause of hereditary prion disease.

Comprehensive Neuromuscular Disorders
up to 123 genes

Invitae Comprehensive Neuromuscular Disorders Panel

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Genetic testing for up to 123 genes that are known to be associated with muscular dystrophies, myopathies, and congenital myasthenic syndromes.

Congenital Myasthenic Syndrome
up to 22 genes

Invitae Congenital Myasthenic Syndrome Panel

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Genetic testing for up to 22 genes that are known to be associated with congenital myasthenic syndrome (CMS).

Malignant Hyperthermia Susceptibility
2 genes

Invitae Malignant Hyperthermia Susceptibility Panel

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Genetic testing for the two genes that are currently known to be associated with malignant hyperthermia susceptibility (MHS).

Muscular Dystrophy
up to 56 genes

Invitae Comprehensive Muscular Dystrophy Panel

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Genetic testing for up to 56 genes that are known to be associated with muscular dystrophies.

27 genes

Invitae Congenital Muscular Dystrophy Panel

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Genetic testing for 27 genes that are known to be associated with congenital muscular dystrophies (CMDs).

17 genes

Invitae Dystroglycanopathy Panel

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Genetic testing for 17 genes that are known to be associated with muscular dystrophy-dystroglycanopathies.

1 gene

Invitae Dystrophinopathies Test

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Genetic testing for DMD, associated with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and dilated cardiomyopathy (DCM).

up to 8 genes

Invitae Emery-Dreifuss Muscular Dystrophy Panel

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Genetic testing for up to eight genes that are known to be associated with Emery-Dreifuss muscular dystrophy (EDMD).

up to 34 genes

Invitae Limb-Girdle Muscular Dystrophy Panel

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Genetic testing for up to 34 genes that are known to be associated with limb-girdle muscular dystrophy (LGMD). This test covers the most common causative genes.

Myopathy
up to 53 genes

Invitae Comprehensive Myopathy Panel

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Genetic testing for up to 52 genes that are known to be associated with myopathy. This test includes the most common causative genes.

up to 28 genes

Invitae Congenital Myopathy Panel

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Genetic testing for up to 28 genes that are known to be associated with congenital myopathies. This test includes the most common causative genes.

3 genes

Invitae Autophagic Vacuolar Myopathy Panel

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Genetic testing for three genes associated with autophagic vacuolar myopathies (AVM).

1 gene

Invitae Central Core Disease Test

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Genetic testing for the RYR1 gene, which is associated with central core disease—a condition that is characterized by muscle weakness and the presence of central cores upon muscle biopsy.

up to 7 genes

Invitae Centronuclear Myopathy Panel

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Genetic testing for up to seven genes that are known to be associated with centronuclear myopathy (CNM).

7 genes

Invitae Congenital Fiber-Type Disproportion Panel

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Genetic testing for seven genes that are known to be associated with congenital fiber-type disproportion (CFTD).

18 genes

Invitae Distal Myopathy Panel

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Genetic testing for 18 genes that are known to be associated with distal myopathy.

up to 5 genes

Invitae Inclusion Body Myopathy Panel

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Genetic testing for up to five genes associated with inclusion body myopathies (IBM).

2 genes

Invitae Multiminicore Disease Panel

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Genetic testing for both genes that are known to be associated with multiminicore disease (MmD).

8 genes

Invitae Myofibrillar Myopathy Panel

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Genetic testing for eight genes that are known to be associated with myofibrillar myopathy.

11 genes

Invitae Nemaline Myopathy Panel

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Genetic testing for 11 genes that are known to be associated with nemaline myopathy.

4 genes

Invitae Periodic Paralysis Panel

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Genetic testing for all four genes that are associated with hypokalemic periodic paralysis (HOKPP).

up to 4 genes

Invitae Type VI Collagenopathy Panel

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Genetic testing for up to four genes that are known to be associated with type VI collagenopathies including Bethlem myopathy 1 (BTHLM1) and Ullrich congenital muscular dystrophy 1 (UCMD1).

Myotonia Congenita
2 genes

Invitae Myotonia and Paramyotonia Congenita Panel

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Genetic testing for 2 genes that cause myotonia and paramyotonia congenita. This test covers the most common causative genes for these disorders.

Spinal Muscular Atrophy
2 genes

Invitae Spinal Muscular Atrophy STAT Panel

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Genetic testing for the copy number of two genes: SMN1, which is associated with spinal muscular atrophy (SMA), and SMN2, which modifies clinical phenotype.

2 genes

Invitae Spinal Muscular Atrophy Panel

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Genetic testing for two genes: SMN1, which is associated with spinal muscular atrophy (SMA), and SMN2, which modifies clinical phenotype.

Comprehensive Neuropathies
up to 83 genes

Invitae Comprehensive Neuropathies Panel

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Genetic testing for up to 83 genes that cause dominant, recessive, and X-linked hereditary neuropathies including Charcot-Marie-Tooth disease (CMT), hereditary motor neuropathies and hereditary sensory and autonomic neuropathies (HSAN).

Charcot-Marie-Tooth Disease
up to 45 genes

Invitae Charcot-Marie-Tooth Disease Comprehensive Panel

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Genetic testing for up to 45 genes that cause dominant, recessive, and X-linked Charcot-Marie-Tooth disease (CMT). This test covers the most common causative genes.

up to 25 genes

Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel

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Genetic testing for up to 25 genes that cause Charcot-Marie-Tooth disease (CMT) with dominant inheritance. This panel includes the most commonly causative genes.

up to 22 genes

Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel

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Genetic testing for up to 22 genes that cause Charcot-Marie-Tooth disease (CMT) with recessive inheritance. This panel includes the most commonly causative genes.

4 genes

Invitae Charcot-Marie-Tooth Disease X-linked Panel

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Genetic testing for four genes that cause Charcot-Marie-Tooth (CMT) disease with X-linked inheritance. This panel includes the most commonly causative genes.

Hereditary Sensory and Autonomic Neuropathy
up to 17 genes

Invitae Hereditary Sensory and Autonomic Neuropathy Panel

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Genetic testing for up to 17 genes that are known to be associated with hereditary sensory and autonomic neuropathy (HSAN) and hereditary sensory neuropathy (HSN).

1 gene

Invitae Familial Dysautonomia Test

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Genetic testing for ELP1 (formerly known as IKBKAP) deletions/duplications and sequence variants which cause familial dysautonomia (FD).

Motor Neuropathy
up to 24 genes

Invitae Hereditary Motor Neuropathy Panel

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Genetic testing for up to 24 genes that are known to be associated with proximal or distal hereditary motor neuropathy (HMN).

2 genes

Invitae Spinal Muscular Atrophy Panel

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Genetic testing for two genes: SMN1, which is associated with spinal muscular atrophy (SMA), and SMN2, which modifies clinical phenotype.

2 genes

Invitae Spinal Muscular Atrophy STAT Panel

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Genetic testing for the copy number of two genes: SMN1, which is associated with spinal muscular atrophy (SMA), and SMN2, which modifies clinical phenotype.

Small Fiber Neuropathy
up to 2 genes

Invitae Small Fiber Neuropathy Test

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Genetic testing for up to two genes that are known to be associated with small fiber neuropathy (SFNP).

Riboflavin Transporter Deficiency Neuronopathy
2 genes

Invitae Riboflavin Transporter Deficiency Neuronopathy Panel

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Genetic testing for two genes that cause riboflavin transporter deficiency neuronopathy, also known as Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. This test covers all known causative genes.

Hereditary Spastic Paraplegia
up to 65 genes

Invitae Hereditary Spastic Paraplegia Comprehensive Panel

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Genetic testing for up to 65 genes that cause dominant, recessive, and X-linked hereditary spastic paraplegia (HSP), including the most commonly causative genes.

up to 16 genes

Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel

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Genetic testing for up to 16 genes that cause autosomal dominant hereditary spastic paraplegia (HSP), including the most commonly causative genes.

up to 47 genes

Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel

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Genetic testing for up to 47 genes that cause autosomal recessive hereditary spastic paraplegia (HSP), including the most commonly causative genes.

5 genes

Invitae Hereditary Spastic Paraplegia X-linked Panel

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Genetic testing for 5 genes that cause X-linked hereditary spastic paraplegia (HSP).

up to 159 genes

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel

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Genetic testing for up to 159 genes that are known to be associated with either cardiomyopathy or skeletal myopathy.

Clinical Area: Epilepsy

up to 192 genes

Invitae Epilepsy Panel

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

Clinical Area: Pediatric and Rare Disease

up to 5 genes

Invitae Alternating Hemiplegia of Childhood Panel

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

2 genes

Invitae Baraitser-Winter Cerebrofrontofacial Syndrome Panel

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

3 genes

Invitae Cerebral Cavernous Malformations Panel

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

1 gene

Invitae CHARGE Syndrome Test

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

up to 69 genes

Invitae Early Infantile Epileptic Encephalopathy Panel

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Genetic testing for up to 69 genes associated with early infantile epileptic encephalopathy (EIEE, also known as Ohtahara syndrome), a condition commonly characterized by intractable seizures within the first three months of life and a classic EEG suppression-burst pattern.

up to 10 genes

Invitae Holoprosencephaly Panel

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Genetic testing for up to 10 genes that are associated with holoprosencephaly (HPE), a spectrum of brain malformations ranging from a single central upper incisor to complete failed separation of the cerebral hemispheres.

up to 28 genes

Invitae Rett and Angelman Syndromes and Related Disorders Panel

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

2 genes

Invitae Tuberous Sclerosis Complex Panel

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

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

  • Clinical Area: Cardiology and Neurology
  • Clinical Area: Epilepsy
  • Clinical Area: Pediatric and Rare Disease

Gene
A
AARS

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

ABAT

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

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: 481325).

ABCD1

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

ACADVL

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

ACTA1

The ACTA1 gene is associated with autosomal dominant and recessive nemaline myopathy 3 (NEM3) (MedGen UID: 371799) and autosomal dominant congenital fiber-type disproportion (CFTD) (MedGen UID: 108177). Other ACTA1-related disorders have also been reported (OMIM# 102610).

ACTB

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

ACTC1

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

ACTG1

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

ACTN2

The ACTN2 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) with or without left ventricular noncompaction (LVNC) (MedGen UID: 393713) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).

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).

AGL

The AGL gene is associated with autosomal recessive glycogen storage disease type III (GSD III) (MedGen UID: 6641).

AGRN

The AGRN gene is associated with autosomal recessive congenital myasthenic syndrome 8 (CMS8) (MedGen UID: 815069).

AIFM1

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

ALDH18A1

The ALDH18A1 gene is associated with autosomal dominant and recessive forms of cutis laxa (ADCL3 and ARCL3A, respectively) (MedGen UID: 851795, 82794) and spastic paraplegia (SPG9A and SPG9B, respectively) (MedGen UID: 322007, 851785). The ALDH18A1 gene is also associated with autosomal recessive delta-pyrroline-5-carboxylate synthetase (P5CS) deficiency (PMID: 11092761).

ALDH5A1

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

ALDH7A1

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

ALG13

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

ALG14

The ALG14 gene is associated with autosomal recessive congenital myasthenic syndrome 15 (CMS15) (MedGen UID: 864033) and ALG14-congenital disorder of glycosylation (ALG14-CDG) (PMID: 28733338).

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).

ALMS1

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

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).

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).

ANKRD1

The ANKRD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and hypertrophic cardiomyopathy (HCM) (PMID: 19608031).

ANO3

The ANO3 gene is associated with autosomal dominant dystonia 24 (DYT24) (MedGen UID: 767288).

ANO5

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

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).

AP5Z1

The AP5Z1 gene is associated with autosomal recessive hereditary spastic paraplegia 48 (SPG48) (MedGen UID: 462251).

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).

ARG1

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

ARHGEF15

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

ARHGEF9

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

ARL6IP1

The ARL6IP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 24482476).

ARSI

The ARSI gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hereditary spastic paraplegia (PMID: 24482476).

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).

ATL1

The ATL1 gene is associated with autosomal dominant hereditary spastic paraplegia type 3A (SPG3A) (MedGen UID: 419393) and hereditary sensory neuropathy type 1D (HSN1D) (MedGen UID: 462322).

ATL3

The ATL3 gene is associated with autosomal dominant hereditary sensory neuropathy type 1F (HSN1F) (MedGen UID: 816524).

ATP13A2

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

ATP1A2

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

ATP1A3

The ATP1A3 gene is associated with autosomal dominant dystonia 12 (DYT12) (MedGen UID: 358384), cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome (MedGen UID: 318633), and alternating hemiplegia of childhood type 2 (AHC2) (MedGen UID: 766702).

ATP2A1

The ATP2A1 gene is associated with autosomal recessive Brody myopathy (MedGen UID: 371441).

ATP6AP2

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

ATP7A

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

ATP7B

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

ATRX

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

B
B3GALNT2

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

B4GALNT1

The B4GALNT1 gene is associated with autosomal recessive hereditary spastic paraplegia 26 (SPG26) (MedGen UID: 373138).

B4GAT1

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

BAG3

The BAG3 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 462643) and myofibrillar myopathy 6 (MFM6) (MedGen UID: 414119).

BICD2

The BICD2 gene is associated with autosomal dominant spinal muscular atrophy, lower extremity predominant 2 (SMALED2) (MedGen UID: 815379).

BIN1

The BIN1 gene is associated with autosomal recessive and dominant centronuclear myopathy (MedGen UID: 98049; PMID: 25260562).

BRAT1

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

BSCL2

The BSCL2 gene is associated with a spectrum of autosomal dominant neurological conditions, including Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 15732094), distal hereditary motor neuropathy type 5 (HMN5) (MedGen UID: 318838), and spastic paraplegia 17 (SPG17), also known as Silver syndrome (MedGen UID: 442302). It is also associated with autosomal recessive congenital generalized lipodystrophy, type 2 (CGL2) (MedGen UID: 318593).

C
C12orf57

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

C12orf65

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

C19orf12

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

CACNA1A

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

CACNA1C

The CACNA1C gene is associated with autosomal dominant Timothy syndrome (TS), also known as long QT syndrome (LQTS), type 8 (MedGen UID: 331395), and short QT syndrome (SQTS) (MedGen UID: 378835). 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 (PMID: 17224476).

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).

CACNA1S

The CACNA1S gene is associated with autosomal dominant hypokalemic periodic paralysis 1 (HOKPP1) (MedGen UID: 811387) and autosomal dominant malignant hyperthermia susceptibility (MHS) (MedGen UID: 418958). It is also associated with autosomal dominant and recessive congenital myopathy (PMID:28012042)

CACNA2D2

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

CACNB4

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

CALR3

The CALR3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462616).

CAPN3

The CAPN3 gene is associated with autosomal recessive and dominant limb-girdle muscular dystrophy type 2A (LGMD2A) (MedGen UID: 358391; PMID:27259757).

CARS2

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

CASK

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

CASR

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

CAV3

The CAV3 gene is associated with autosomal dominant long QT syndrome type 9 (LQT9) (MedGen UID: 395635) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195). It is also associated with a spectrum of neuromuscular conditions including autosomal dominant hyperCKemia (MedGen UID: 69128) and distal myopathy (MedGen UID: 833809), and autosomal dominant and recessive limb-girdle muscular dystrophy type 1C (LGMD1C) (MedGen UID: 371358) and rippling muscle disease (MedGen UID: 342944), collectively known as the caveolinopathies (MedGen UID: 433151).

CBL

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

CCDC78

The CCDC78 gene is associated with autosomal dominant centronuclear myopathy 4 (CNM4) (MedGen UID: 766623).

CCM2

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

CCT5

The CCT5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary sensory neuropathy with spastic paraplegia (MedGen UID: 342492).

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).

CDON

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

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).

CFL2

The CFL2 gene is associated with autosomal recessive nemaline myopathy 7 (NEM7) (MedGen UID: 343979).

CHAT

The CHAT gene is associated with autosomal recessive congenital myasthenic syndrome 6 (CMS6) (MedGen UID: 140751).

CHCHD10

The CHCHD10 gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) (MedGen UID: 797270), spinal muscular atrophy, Jokela type (SMAJ) (MedGen UID: 767312), and isolated mitochondrial myopathy (IMMD) (MedGen UID: 830724).

CHCHD2

The CHCHD2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Parkinson’s disease 22 (PARK22) (PMID: 25662902, 26067110).

CHD2

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

CHD7

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

CHKB

The CHKB gene is associated with autosomal recessive congenital muscular dystrophy, megaconial type (MDCMC) (MedGen UID: 355943).

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).

CHRM2

The CHRM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 18451336, 23743182).

CHRNA1

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

CHRNA2

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

CHRNA4

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

CHRNB1

The CHRNB1 gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 833647, 833664, 373251).

CHRNB2

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

CHRND

The CHRND gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UID: 833694, 833685, 833675) and autosomal recessive fetal akinesia deformation sequence (FADS) (MedGen UID: 381473).

CHRNE

The CHRNE gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 373251, 344169, 833673).

CIZ1

The CIZ1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dystonia 23 (PMID: 22447717).

CLCN1

The CLCN1 gene is associated with autosomal dominant and recessive myotonia congenita (MedGen UID: 422446, 155852).

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).

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).

CNTN1

The CNTN1 gene is associated with autosomal recessive Compton-North congenital myopathy (MYPCN) (MedGen UID: 393406).

CNTN2

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

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).

COL12A1

The COL12A1 gene is associated with autosomal dominant Bethlem myopathy 2 (BTHLM2) (MedGen UID: 907426) and autosomal recessive Ullrich congenital muscular dystrophy 2 (UCMD2) (MedGen UID: 899150).

COL6A1

The COL6A1 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 331805) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393).

COL6A2

The COL6A2 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 331805) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393). Other COL6A2-related disorders have also been reported (OMIM: 120240).

COL6A3

The COL6A3 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 331805) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393). Other COL6A3-related disorders have also been reported (OMIM: 120250).

COLQ

The COLQ gene is associated with autosomal recessive congenital myasthenic syndrome 5 (CMS5) (MedGen UID: 400481).

COQ4

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

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).

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).

CPT1C

The CPT1C gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spastic paraplegia 73 (SPG73) (MedGen UID: 833082).

CPT2

The CPT2 gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896). Additionally, the CPT2 gene has preliminary evidence supporting a correlation with autosomal dominant malignant hyperthermia (PMID: 19762733, 10873395).

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).

CRYAB

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

CSRP3

The CSRP3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 429755) and dilated cardiomyopathy (DCM) (MedGen UID: 334498).

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.

CTF1

The CTF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 11058912).

CTNNA3

The CTNNA3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 816468).

CTSD

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

CYP2U1

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

CYP7B1

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

D
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).

DCAF17

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

DCTN1

The DCTN1 gene is associated with autosomal dominant Perry syndrome (MedGen UID: 357007), distal hereditary motor neuropathy type VIIB (HMN7B) (MedGen UID: 375157), and amyotrophic lateral sclerosis 1 (ALS1) (MedGen UID: 400169).

DDC

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

DDHD1

The DDHD1 gene is associated with autosomal recessive hereditary spastic paraplegia 28 (SPG28) (MedGen UID: 332174).

DDHD2

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

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).

DES

The DES gene is associated with autosomal dominant and recessive myofibrillar myopathy 1 (MFM1) (MedGen UID: 330449). It is also associated with autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R)(MedGen UID: 815467) and autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 387998).

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).

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).

DNAJB2

The DNAJB2 gene is associated with autosomal recessive distal hereditary motor neuropathy, also known as distal spinal muscular atrophy 5 (DSMA5) (MedGen UID: 766903) and Charcot-Marie-Tooth disease type 2T (CMT2T) (MedGen UID: 831274).

DNAJB6

The DNAJB6 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E), also known as LGMD1D (MedGen UID: 460114) and distal myopathy (PMID: 26205529).

DNAJC19

The DNAJC19 gene is associated with autosomal recessive 3-methylglutaconic aciduria, type V (MedGen UID: 347542).

DNAJC5

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

DNAJC6

The DNAJC6 gene is associated with autosomal recessive juvenile-onset Parkinson’s disease 19 (PARK19) (MedGen UID: 816141).

DNM1

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

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 hereditary sensory neuropathy type 1E (HSN1E) (MedGen UID: 481515). Additionally, the DNMT1 gene has preliminary evidence supporting a correlation with autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) (MedGen UID: 347726).

DOCK7

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

DOK7

The DOK7 gene is associated with autosomal recessive congenital myasthenic syndrome 10 (CMS10) (MedGen UID: 376880) and fetal akinesia deformation sequence (FADS) (MedGen UID: 220903).

DOLK

The DOLK gene is associated with the autosomal recessive congenital disorder of glycosylation DOLK-CDG (CDG-Im) (MedGen UID 332072).

DPAGT1

The DPAGT1 gene is associated with autosomal recessive congenital myasthenic syndrome 13 (CMS13) (MedGen UID: 766559) and DPAGT1-congenital disorder of glycosylation (CDG-Ij) (MedGen UID: 419694).

DPM1

The DPM1 gene is associated with autosomal recessive DPM1-congenital disorder of glycosylation (CDG-Ie) (MedGen UID: 324784).

DPM2

The DPM2 gene is associated with autosomal recessive DPM2-congenital disorder of glycosylation (CDG-Iu) (MedGen UID: 767299).

DPM3

The DPM3 gene is associated with autosomal recessive DPM3-congenital disorder of glycosylation (CDG-Io) (MedGen UID: 414534).

DRD2

The DRD2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant myoclonic dystonia (MedGen UID: 331778).

DSC2

The DSC2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 351237) and autosomal recessive ARVC with palmoplantar keratoderma and woolly hair (OMIM: 125645).

DSG2

The DSG2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 347543) and dilated cardiomyopathy (DCM) (MedGen UID: 414552).

DSP

The DSP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 336069) and dilated cardiomyopathy (DCM) with woolly hair, keratoderma and tooth agenesis (MedGen UID: 808093), as well as autosomal recessive DCM with woolly hair and keratoderma (MedGen UID: 340124). Additional DSP-related conditions have been reported (OMIM: 125647).

DST

The DST gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 6 (HSAN6) (MedGen UID: 761278) and epidermolysis bullosa simplex 2 (EBSB2) (MedGen UID: 815800).

DTNA

The DTNA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (MedGen UID: 349005).

DYNC1H1

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

DYRK1A

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

DYSF

The DYSF gene is associated with autosomal recessive Miyoshi muscular dystrophy type 1 (MMD1) (MedGen UID: 338128), limb-girdle muscular dystrophy type 2B (LGMD2B) (MedGen UID: 338149), and distal myopathy with anterior tibial onset (DMAT) (MedGen UID: 335706), collectively known as the dysferlinopathies (MedGen UID: 419874).

E
EEF1A2

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

EFHC1

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

EGR2

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

EHMT1

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

ELAC2

The ELAC2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (MedGen UID: 322999).

ELP1

The ELP1 gene (formerly known as IKBKAP) is associated with autosomal recessive familial dysautonomia (FD), also known as hereditary sensory and autonomic neuropathy type 3 (HSAN3) (MedGen UID: 41678).

EMD

The EMD gene is associated with X-linked Emery-Dreifuss muscular dystrophy type 1 (EDMD1) (MedGen UID: 148284).

ENTPD1

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

EPM2A

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

ERLIN1

The ERLIN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 62 (SPG62) (MedGen UID: 924879; PMID: 24482476).

ERLIN2

The ERLIN2 gene is associated with autosomal recessive hereditary spastic paraplegia 18 (SPG18) (MedGen UID: 442343).

EXOSC3

The EXOSC3 gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) type 1 (MedGen UID: 766363). Additionally, the EXOSC3 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 23975261, 25149867).

EYA4

The EYA4 gene is associated with autosomal dominant deafness with or without dilated cardiomyopathy (MedGen UID: 321966). Additional EYA4-related conditions have been reported (OMIM: 603550).

F
FA2H

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

FARS2

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

FASN

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

FBXO38

The FBXO38 gene is associated with autosomal dominant distal hereditary motor neuropathy 2D (HMN2D) (MedGen UID: 777992).

FBXO7

The FBXO7 gene is associated with autosomal recessive Parkinson’s disease 15 (PARK15) (MedGen UID: 337969).

FGD4

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

FGFR1

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

FHL1

The FHL1 gene is associated with X-linked Emery-Dreifuss muscular dystrophy type 6 (EDMD6) (MedGen UID: 395525), reducing body myopathies (RBM) (MedGen UIDs: 394710, 394714) and hypertrophic cardiomyopathy (PMID: 24114807). Other FHL1-related conditions have been reported (OMIM: 300163).

FHL2

The FHL2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (PMID: 25358972).

FIG4

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

FKBP14

The FKBP14 gene is associated with autosomal recessive Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) (MedGen UID: 482790).

FKRP

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

FKTN

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

FLNA

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

FLNC

The FLNC gene is associated with autosomal dominant myofibrillar myopathy 5 (MFM5) (MedGen UID: 372186), distal myopathy 4 (MPD4) (MedGen UID: 481352), dilated cardiomyopathy (PMID: 25633252, 27908349), hypertrophic cardiomyopathy (PMID: 25351925, 28356264), and restrictive cardiomyopathy (PMID: 26666891).

FLRT1

The FLRT1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive peripheral neuropathy (PMID: 24482476).

FOLR1

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

FOXG1

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

FOXH1

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

FRRS1L

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

FTL

The FTL gene is associated with autosomal dominant neurodegeneration with neuroferritinopathy (MedGen UID: 381211) and hereditary hyperferritinemia-cataract syndrome (HHCS) (MedGen UID: 318812). Additionally, the FTL gene has preliminary evidence supporting a correlation with L-ferritin deficiency (MedGen UID: 816420).

FUCA1

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

FUS

The FUS gene is associated with autosomal dominant amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) (MedGen UID: 374989). Additionally, the FUS gene has preliminary evidence supporting an association with autosomal dominant hereditary essential tremor 4 (ETM4) (MedGen UID: 761337).

G
GAA

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

GABBR2

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

GABRA1

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

GABRA6

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

GABRB2

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

GABRB3

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

GABRD

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

GABRG2

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

GAL

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

GAMT

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

GAN

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

GARS

The GARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) (MedGen UID: 316946) and distal hereditary motor neuropathy 5 (HMN5) (MedGen UID: 318838), collectively referred to as GARS-associated axonal neuropathies (MedGen UID: 468432).

GATA4

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

GATA6

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

GATAD1

The GATAD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy (DCM) (MedGen UID: 766323).

GATM

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

GBA2

The GBA2 gene is associated with autosomal recessive hereditary spastic paraplegia 46 (SPG46) (MedGen UID: 473687).

GCH1

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

GCSH

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

GDAP1

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

GFPT1

The GFPT1 gene is associated with autosomal recessive congenital myasthenic syndrome 12 (CMS12) (MedGen UID: 350478).

GJA1

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

GJB1

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

GJC2

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

GLA

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

GLDC

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

GLI2

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

GLRA1

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

GMPPB

The GMPPB gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A14 (MDDGA14) (MedGen UID: 815546), type B14 (MDDGB14) (MedGen UID: 815551) and type C14 (MDDGC14) (MedGen UID: 811507), and autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 26133662).

GNAL

The GNAL gene is associated with autosomal dominant dystonia 25 (DYT25) (MedGen UID: 767361).

GNAO1

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

GNB4

The GNB4 gene is associated with dominant intermediate Charcot-Marie-Tooth disease type F (CMTDIF) (MedGen UID: 767568).

GNE

The GNE gene is associated with autosomal recessive GNE-related myopathy (MedGen UID: 381298) and autosomal dominant sialuria (MedGen UID: 137980).

GOSR2

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

GPHN

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

GRIN1

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

GRIN2A

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

GRIN2B

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

GRN

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

GTPBP2

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

GYS1

The GYS1 gene is associated with autosomal recessive glycogen synthase deficiency, muscle type (GSD 0b, muscle form) (MedGen UID: 409741).

H
HARS

The HARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease, type 2W (CMT2W) (MedGen UID: 851839).

HCN1

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

HCN4

The HCN4 gene is associated with autosomal dominant left ventricular noncompaction (LVNC) (PMID: 25145517) and sinus node dysfunction or bradycardia (MedGen UID: 320273). Additionally, the HCN4 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 22840528).

HDAC8

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

HEXA

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

HINT1

The HINT1 gene is associated with autosomal recessive neuromyotonia and axonal neuropathy (NMAN) (MedGen UID: 449355).

HNRNPA2B1

The HNRNPA2B1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) (MedGen UID: 815798; PMID: 23455423).

HNRNPDL

The HNRNPDL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant limb-girdle muscular dystrophy (PMID: 24647604).

HNRNPU

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

HPCA

The HPCA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive torsion dystonia 2 (DYT2) (MedGen UID: 346511).

HSPB1

The HSPB1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) (MedGen UID: 335784) and distal hereditary motor neuropathy 2B (HMN2B) (MedGen UID: 382017).

HSPB3

The HSPB3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant distal hereditary motor neuropathy 2C (HMN2C) (MedGen UID: 461969).

HSPB8

The HSPB8 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) (MedGen UID: 324826) and distal hereditary motor neuropathy 2A (HMN2A) (MedGen UID: 322471).

HSPD1

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

I
IBA57

The IBA57 is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 3 (MMDS3) (MedGen UID: 815495). Additionally, the IBA57 gene has preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia 74 (MedGen UID: 908839).

IER3IP1

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

IGHMBP2

The IGHMBP2 gene is associated with autosomal recessive distal hereditary motor neuropathy 6, also known as spinal muscular atrophy with respiratory distress 1 (SMARD1) (MedGen UID: 388083) and Charcot-Marie-Tooth disease type 2S (CMT2S) (MedGen UID: 830572).

ILK

The ILK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17646580).

INF2

The INF2 gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS5) (MedGen UID: 413315) and dominant intermediate Charcot-Marie-Tooth disease type E (CMT-DIE) (MedGen UID: 482475).

IQSEC2

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

ISPD

The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 863532).

ITGA7

The ITGA7 gene is associated with autosomal recessive congenital muscular dystrophy due to integrin alpha-7 deficiency (MedGen UID: 413044).

ITPA

The ITPA gene is associated with autosomal recessive inosine triphosphate pyrophosphohydrolase (ITPase) deficiency (MedGen UID: 452450).

J
JMJD1C

The JMJD1C gene is associated with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26181491). Additionally, the JMJD1C gene has preliminary evidence supporting a correlation with autism spectrum disorder (PMID: 20808228, 22495311).

JPH2

The JPH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462614) and dilated cardiomyopathy (DCM) (MedGen UID: 2880).

JUP

The JUP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 409749) and autosomal recessive Naxos disease (MedGen UID: 321991).

K
KANSL1

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

KBTBD13

The KBTBD13 gene is associated with autosomal dominant nemaline myopathy 6 (NEM6) (MedGen UID: 373095).

KCNA1

The KCNA1 gene is associated with autosomal dominant episodic ataxia type 1 (EA1) (MedGen UID: 318554). Additionally, the KCNA1 gene has preliminary evidence supporting a correlation with autosomal dominant seizures without ataxic episodes (PMID: 11026449, 10355668, 11773313).

KCNA2

The KCNA2 gene is associated with autosomal dominant and recessive early infantile epileptic encephalopathy (EIEE) (MedGen UID: 833891; PMID: 27457812) and autosomal dominant hereditary spastic paraplegia and ataxia (PMID: 27543892).

KCNB1

The KCNB1 gene is associated with autosomal dominant early infantile epileptic encephalopathy 26 (PMID: 25164438, 26648591).

KCNC1

The KCNC1 gene is associated with autosomal dominant progressive myoclonic epilepsy 7 (PME7) (MedGen UID: 830625). Additionally, the KCNC1 gene has preliminary evidence supporting a correlation with autosomal dominant intellectual disability and dysmorphic features without seizures (PMID: 28145425).

KCND2

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

KCNH2

The KCNH2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 2 (MedGen UID: 462293) and short QT syndrome (SQTS) (MedGen UID: 355891). Additionally, the KCNH2 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24400717). For information about the location of a KCNH2 variant, please visit www.invitae.com/KCNH2-topology.

KCNH5

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

KCNJ10

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

KCNJ2

The KCNJ2 gene is associated with autosomal dominant Andersen-Tawil syndrome, also known as long QT syndrome (LQTS), type 7 (MedGen UID: 327586), short QT syndrome (SQTS) (MedGen UID: 400662), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (PMID: 22589293). Additionally, the KCNJ2 gene has preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 462781).

KCNMA1

The KCNMA1 gene is associated with autosomal dominant generalized epilepsy and paroxysmal dyskinesia (MedGen UID: 332144) and autosomal recessive early infantile epileptic encephalopathy (EIEE) (PMID: 29545233, 27567911).

KCNQ2

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

KCNQ3

The KCNQ3 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 377707). Additionally, the KCNQ3 gene has preliminary evidence supporting a correlation with early infantile epileptic encephalopathy (EIEE) (PMID: 29383681).

KCNT1

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

KCTD17

The KCTD17 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant myoclonic dystonia 26 (DYT26) (MedGen UID: 833970).

KCTD7

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

KDM5C

The KDM5C gene is associated with X-linked intellectual disability, Claes-Jensen type (MedGen UID: 335139).

KIF1A

The KIF1A gene is associated with autosomal recessive hereditary sensory neuropathy type 2C (HSN2C) (MedGen UID: 481798) and spastic paraplegia 30 (SPG30) (MedGen UID: 372152). The KIF1A gene is also associated with autosomal dominant complicated spastic paraplegia and intellectual disability 9 (ID9) (MedGen UID: 481913; PMID: 25265257).

KIF1B

The KIF1B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome (PMID: 24694336) and neuroblastoma (PMID: 18614535, 18334619, 24469107).

KIF1C

The KIF1C gene is associated with autosomal recessive hereditary spastic paraplegia (MedGen UID: 370750).

KIF5A

The KIF5A gene is associated with autosomal dominant hereditary spastic paraplegia 10 (SPG10) (MedGen UID: 349003), amyotrophic lateral sclerosis 25 (ALS25) (MedGen UID: 1633917), and intractable neonatal myoclonus (MedGen UID: 934625).

KLHL40

The KLHL40 gene is associated with autosomal recessive nemaline myopathy 8 (NEM8) (MedGen UID: 815539).

KLHL41

The KLHL41 gene is associated with autosomal recessive nemaline myopathy 9 (NEM9) (MedGen UID: 816714).

KPNA7

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

KRIT1

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

L
L1CAM

The L1CAM gene is associated with X-linked L1 Syndrome (MedGen UID: 468441), which includes a spectrum of conditions ranging from complicated hereditary spastic paraplegia 1 (SPG1) (MedGen UID: 162894), X-linked hydrocephalus syndrome (HSAS) (MedGen UID: 75552), MASA syndrome (OMIM: 303350) to X-linked complicated corpus callosum agenesis (MedGen UID: 374339). Other L1CAM-related conditions have been reported (OMIM: 308840).

LAMA2

The LAMA2 gene is associated with autosomal recessive LAMA2-related muscular dystrophy (LAMA2 MD) (MedGen UID: 468394).

LAMA4

The LAMA4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 815265).

LAMB2

The LAMB2 gene is associated with autosomal recessive nephrotic syndrome, type 5 (NPHS5) with or without ocular abnormalities (MedGen UID: 481743), and Pierson syndrome (MedGen UID: 373199). Additionally, the LAMB2 gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (PMID: 19251977).

LAMP2

The LAMP2 gene is associated with X-linked Danon disease (MedGen UID: 209235).

LARGE1

The LARGE1 gene (formerly known as LARGE) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A6 (MDDGA6) (MedGen UID: 461764) and type B6 (MDDGB6) (MedGen UID: 373284).

LAS1L

The LAS1L gene is associated with X-linked Wilson-Turner intellectual disability syndrome (MedGen UID: 333393). Additionally, the LAS1L gene has preliminary evidence supporting a correlation with X-linked congenital lethal motor neuron disease (PMID: 24647030).

LDB3

The LDB3 gene (formerly known as ZASP) is associated with autosomal dominant myofibrillar myopathy 4 (MFM4) (MedGen UID: 322840). Additionally, the LDB3 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction (LVNC) (MedGen UID: 349005).

LGI1

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

LIAS

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

LIMS2

The LIMS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy (PMID: 25589244).

LITAF

The LITAF gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1C (CMT1C) (MedGen UID: 331363).

LMNA

The LMNA gene is associated with a diverse group of disorders affecting skeletal and cardiac muscle including autosomal recessive and dominant Emery-Dreifuss muscular dystrophy type 2 (EDMD2) (MedGen UID: 98048) and type 3 (EDMD3) (MedGen UID: 413212) and autosomal recessive Charcot-Marie-Tooth disease type 2B1 (CMT2B1) (MedGen UID: 343064). It is also associated with the following autosomal dominant conditions: limb-girdle muscular dystrophy type 1B (LGMD1B) (MedGen UID: 320400), congenital muscular dystrophy (MedGen UID: 413043), dilated cardiomyopathy (DCM) (MedGen UID: 258500), familial partial lipodystrophy (FPLD2) (MedGen UID: 354526) and Hutchinson-Gilford progeria syndrome (HGPS) (MedGen UID: 46123). Other conditions have also been reported (OMIM: 150330).

LMNB2

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

LMOD3

The LMOD3 gene is associated with autosomal recessive nemaline myopathy 10 (NEM10) (MedGen UID: 830573).

LRP4

The LRP4 gene is associated with autosomal recessive Cenani-Lenz syndactyly syndrome (CLSS) (MedGen UID: 395226). Additionally, the LRP4 gene has preliminary evidence supporting a correlation with sclerosteosis 2 (SOST2) (PMID: 21471202) and autosomal recessive congenital myasthenic syndrome 17 (CMS17) (PMID: 24234652).

LRRC10

The LRRC10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 26017719).

LRRK2

The LRRK2 gene is associated with autosomal dominant Parkinson’s disease 8 (PARK8) (MedGen UID: 339628).

LRSAM1

The LRSAM1 gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2P (CMT2P) (MedGen UID: 482427).

M
MAG

The MAG gene is associated with autosomal recessive spastic paraplegia 75 (SPG75) (MedGen UID: 896387).

MAPT

The MAPT gene is associated with a spectrum of related autosomal dominant neurodegenerative disorders including frontotemporal dementia (FTD) (MedGen UID: 83266), Pick disease (MedGen UID: 116020), and progressive supranuclear palsy 1 (PSNP1) (MedGen UID: 1640811), collectively known as MAPT-related tauopathies (MedGen UID: 893467). Additionally, the MAPT gene has preliminary evidence supporting a correlation with susceptibility to late-onset Parkinson disease (MedGen UID: 463618) and with autosomal recessive Parkinson-dementia syndrome (MedGen UID: 342410).

MARS

The MARS gene is associated with autosomal recessive interstitial lung and liver disease (ILLD) (MedGen UID: 815981). Additionally, the MARS gene has preliminary evidence supporting a correlation with autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) (PMID: 23729695).

MATR3

The MATR3 gene is associated with autosomal dominant distal myopathy 2 (MPD2) (MedGen UID: 342950). In addition, the MATR3 gene has preliminary evidence for a correlation with autosomal dominant amyotrophic lateral sclerosis 21 (ALS21) (PMID: 26493020, 25771394, 24686783).

MBD5

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

MECP2

The MECP2 gene is associated with X-linked Rett syndrome / atypical Rett syndrome (MedGen UID: 48441) and X-linked MECP2 duplication syndrome (MedGen: 337496), a contiguous gene duplication involving MECP2 as well as other neighboring genes within Xq28.

MED12

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

MED25

The MED25 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 2B2 (CMT2B2) (MedGen UID: 381352).

MEF2C

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

MEGF10

The MEGF10 gene is associated with autosomal recessive early-onset myopathy, areflexia, respiratory distress and dysphasia (EMARDD) (MedGen UID: 482309).

MFN2

The MFN2 gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2A (CMT2A) (MedGen UID: 373098, 934692) and autosomal dominant hereditary motor and sensory neuropathy type VIA (HMSN6A (MedGen UID: 140747).

MFSD8

The MFSD8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 7 (CLN7) (MedGen UID: 325457) and retinal dystrophy (MedGen UID: 863808).

MOCS1

The MOCS1 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 381530).

MOCS2

The MOCS2 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340760); The MOCS2 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340760).

MORC2

The MORC2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2Z (CMT2Z) (MedGen UID: 907298).

MPZ

The MPZ gene is associated with a spectrum of autosomal dominant peripheral neuropathies including Charcot-Marie-Tooth disease types 1B (CMT1B) (MedGen UID: 124377), 2I (CMT2I) (MedGen UID: 854756), 2J (CMT2J) (MedGen UID: 375107), and dominant intermediate Charcot-Marie-Tooth disease (DI-CMTD) (MedGen UID: 334318).

MTM1

The MTM1 gene is associated with X-linked centronuclear myopathy (XLCNM) (MedGen UID: 98374).

MTMR2

The MTMR2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B1 (CMT4B1) (MedGen UID: 321947).

MTO1

The MTO1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (MedGen UID: 766443).

MTOR

The MTOR gene is associated with autosomal dominant Smith-Kingsmore syndrome (MedGen UID: 899689).

MUSK

The MUSK gene is associated with autosomal recessive congenital myasthenic syndrome 9 (CMS9) (MedGen UID: 833690) and fetal akinesia deformation sequence (FADS) (MedGen UID: 220903).

MYBPC3

The MYBPC3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 350526), dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).

MYF6

The MYF6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy 3 (CNM3) (MedGen UID: 482333).

MYH2

The MYH2 gene is associated with autosomal dominant and recessive inclusion body myopathy type 3 (MYPOP) (MedGen UID: 381340).

MYH6

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

MYH7

The MYH7 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195), dilated cardiomyopathy (DCM) (MedGen UID: 37831), left ventricular noncompaction (LVNC) (MedGen UID: 349005), and Laing distal myopathy (MPD1) (MedGen UID: 449370). It is also associated with autosomal dominant and recessive myosin storage myopathy (MSMA) (MedGen UID:374868) and autosomal dominant scapuloperoneal myopathy (SPMM) (MedGen UID: 442146).

MYL2

The MYL2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 331754) and autosomal recessive early-onset MYL2-associated light chain myopathy (PMID: 23365102).

MYL3

The MYL3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 324806) and autosomal recessive restrictive cardiomyopathy (RCM) (PMID: 12021217).

MYLK2

The MYLK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195).

MYOM1

The MYOM1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (PMID: 21256114).

MYOT

The MYOT gene is associated autosomal dominant myofibrillar myopathy 3 (MFM3) (MedGen UID: 322957) and limb-girdle muscular dystrophy type 1A (LGMD1A) (MedGen UID: 331802). Other MYOT-related conditions have been reported (OMIM: 604103).

MYOZ2

The MYOZ2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462554).

MYPN

The MYPN gene is associated with autosomal recessive nemaline myopathy (PMID:28017374). Additionally, the MYPN gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 490120), hypertrophic cardiomyopathy (HCM) (OMIM: 615248), and restrictive cardiomyopathy RCM (OMIM: 615248).

N
NDRG1

The NDRG1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4D (CMT4D) (MedGen UID: 371304).

NEB

The NEB gene is associated with autosomal recessive nemaline myopathy 2 (NEM2) (MedGen UID: 342534).

NEBL

The NEBL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 20951326).

NECAP1

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

NEDD4L

The NEDD4L gene is associated with autosomal dominant periventricular nodular heterotopia (MedGen UID: 893326). Additionally, the NEDD4L gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23934111).

NEFL

The NEFL gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2E (CMT2E) (MedGen UID: 375127) and type 1F (CMT1F) (MedGen UID: 334337).

NEXMIF

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

NEXN

The NEXN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 413929) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 462617).

NGF

The NGF gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 5 (HSAN5) (MedGen UID: 6916).

NGLY1

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

NHLRC1

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

NIPA1

The NIPA1 gene is associated with autosomal dominant hereditary spastic paraplegia 6 (SPG6) (MedGen UID: 324965).

NKX2-5

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

NODAL

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

NPPA

The NPPA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 394252) and autosomal recessive atrial dilated cardiomyopathy with atrial standstill (PMID: 23275345).

NPRL3

The NPRL3 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 934675).

NRXN1

The NRXN1 gene is associated with autosomal recessive Pitt-Hopkins-like syndrome (MedGen UID: 482109). Additionally, the NRXN1 gene has preliminary evidence supporting a correlation with autism spectrum disorder (PMID: 26185613, 22542183) and schizophrenia (PMID: 24126932, 21424692).

NT5C2

The NT5C2 gene is associated with autosomal recessive hereditary spastic paraplegia 45 (SPG45) (MedGen UID: 395641).

NTRK1

The NTRK1 gene is associated with autosomal recessive congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type 4 (HSAN4) (MedGen UID: 6915).

NUS1

The NUS1 gene is associated with autosomal dominant developmental and epileptic encephalopathy (PMID: 29100083). Additionally, the NUS1 gene has preliminary evidence supporting a correlation with autosomal recessive NUS1-related congenital disorder of glycosylation (NUS1-CDG) (PMID: 25066056).

O
OPTN

The OPTN gene is associated with autosomal recessive amyotrophic lateral sclerosis type 12 (ALS12) (MedGen UID: 462042). Autosomal dominant inheritance with incomplete penetrance has also been suggested (PMID: 20428114, 21852022, 21217154, 26740678). The OPTN gene is also associated with autosomal dominant primary open angle glaucoma (POAG) (MedGen UID: 87389).

P
PACS1

The PACS1 gene is associated with autosomal dominant intellectual disability 17 (ID17) (MedGen UID: 767257).

PANK2

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

PARK7

The PARK7 gene (previously known as DJ1) is associated with autosomal recessive Parkinson’s disease 7 (PARK7) (MedGen UID: 344049).

PCDH19

The PCDH19 gene is associated with X-linked early infantile epileptic encephalopathy (MedGen UID: 338393). PCDH19-related EIEE appears to affect only heterozygous females while sparing obligate carrier males (PMID: 18469813). Males with somatic mosaicism have been reported to be affected with a similar phenotype to reported females (PMID: 28462982, 28669061, 26765483).

PDCD10

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

PDK3

The PDK3 gene is associated with X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) (MedGen UID: 813037).

PDLIM3

The PDLIM3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17254821), hypertrophic cardiomyopathy (HCM) (PMID: 20801532), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 11329061).

PFN1

The PFN1 gene is associated with autosomal dominant amyotrophic lateral sclerosis 18 (ALS18) (MedGen UID: 766633).

PGAP1

The PGAP1 gene is associated with autosomal recessive intellectual disability (MedGen UID: 862780). Additionally, the PGAP1 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 24482476).

PIGA

The PIGA gene is associated with X-linked PIGA-congenital disorder of glycosylation (MedGen UID: 477139).

PIGG

The PIGG gene is associated with autosomal recessive PIGG-congenital disorder of glycosylation (PMID: 26996948, 28581210).

PIGN

The PIGN gene is associated with autosomal recessive PIGN-congenital disorder of glycosylation (MedGen UID: 481405).

PIGO

The PIGO gene is associated with autosomal recessive PIGO-congenital disorder of glycosylation (MedGen UID: 766551).

PIGQ

The PIGQ gene is associated with autosomal recessive PIGQ-congenital disorder of glycosylation (MedGen UID: 945249).

PIK3AP1

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

PINK1

The PINK1 gene is associated with autosomal recessive early-onset Parkinson disease 6 (PARK6) (MedGen UID: 342982). Additionally, the PINK1 gene has preliminary evidence supporting a correlation with autosomal dominant Parkinson disease (PMID: 20461815).

PKP2

The PKP2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 373205) and dilated cardiomyopathy (DCM) (PMID: 20716751). Additionally, the PKP2 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24352520).

PLA2G6

The PLA2G6 gene is associated with a spectrum of autosomal recessive conditions including PLA2G6-associated neurodegeneration (PLAN) (MedGen UID: 831067), neuroaxonal dystrophy (NAD) (MedGen UID: 82852), and Parkinson disease 14 (PARK14) (MedGen UID: 414488).

PLCB1

The PLCB1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 462338).

PLEC

The PLEC gene is associated with autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBSMD) (MedGen UID: 347335), epidermolysis bullosa simplex with pyloric atresia (EBSPA) (MedGen UID: 436922), epidermolysis bullosa simplex with myasthenic syndrome (EBSMS) (PMID: 21263134), and limb-girdle muscular dystrophy type 2Q (LGMD2Q) (MedGen UID: 462339). It is also associated with autosomal dominant epidermolysis bullosa simplex, Ogna type (EBSOG) (MedGen UID: 98488).

PLEKHG5

The PLEKHG5 gene is associated with autosomal recessive intermediate Charcot-Marie-Tooth disease type C (CMTRIC) (MedGen UID: 815639) and distal hereditary motor neuropathy, also known as distal spinal muscular atrophy 4 (DSMA4) (MedGen UID: 369682).

PLEKHM2

The PLEKHM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy and left ventricular noncompaction (PMID: 26464484).

PLN

The PLN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 322782), hypertrophic cardiomyopathy (HCM) (MedGen UID: 462615), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 22820313).

PLP1

The PLP1 gene is associated with a spectrum of X-linked conditions, ranging from X-linked hereditary spastic paraplegia 2 (SPG2) (MedGen UID: 374177) to Pelizaeus-Merzbacher disease (PMD) (MedGen UID: 61440).

PMP22

The PMP22 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1A (CMT1A) (MedGen UID: 75727), CMT type 1E (CMT1E) (MedGen UID: 501212), and hereditary neuropathy with liability to pressure palsies (HNPP) (MedGen UID: 98291). Other PMP22-related disorders have also been reported (OMIM 601097).

PNKD

The PNKD gene is associated with autosomal dominant familial paroxysmal nonkinesigenic dyskinesia (PNKD) (MedGen UID: 401504).

PNKP

The PNKP gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 462017) and ataxia with oculomotor apraxia (PMID:25728773).

PNPLA2

The PNPLA2 gene is associated with autosomal recessive neutral lipid storage disease with myopathy (NLSDM) (MedGen UID: 339913).

PNPLA6

The PNPLA6 gene is associated with a spectrum of autosomal recessive neurological conditions, including hereditary spastic paraplegia 39 (SPG39) (MedGen UID: 383142), Boucher-Neuhauser syndrome (BNHS) (MedGen UID: 347798), Oliver-McFarlane syndrome (OMCS) (MedGen UID: 338532), and Lawrence-Moon syndrome (LNMS) (MedGen UID: 44078).

PNPO

The PNPO gene is associated with autosomal recessive pyridoxal 5’-phosphate-dependent epilepsy (MedGen UID: 350498).

POLG

The POLG gene is associated with a spectrum of related autosomal recessive conditions including Alpers-Huttenlocher syndrome (AHS) (MedGen UID: 60012), childhood myocerebrohepatopathy spectrum (MCHS) (PMID: 18546365, 15689359), myoclonic epilepsy myopathy sensory ataxia (MEMSA) (MedGen UID: 334510), progressive external ophthalmoplegia (arPEO) (MedGen UID: 897191) and ataxia neuropathy spectrum (ANS) (MedGen UID: 375302). In addition, the POLG gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions (adPEO) (MedGen UID: 371919).

POMGNT1

The POMGNT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A3 (MDDGA3) (MedGen UID: 462869), type B3 (MDDGB3) (MedGen UID: 461762) and type C3 (MDDGC3) (MedGen UID: 461767), and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934671).

POMGNT2

The POMGNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A8 (MDDGA8) (MedGen UID: 766727) and type C8 (MDDGC8) (MedGen UID: 1648468).

POMK

The POMK gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A12 (MDDGA12) (MedGen UID: 815294) and type C12 (MDDGC12) (MedGen UID: 863621).

POMT1

The POMT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A1 (MDDGA1) (MedGen UID: 75553), type B1 (MDDGB1) (MedGen UID: 461765) and type C1 (MDDGC1) (MedGen UID: 332193).

POMT2

The POMT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A2 (MDDGA2) (MedGen UID: 461761), type B2 (MDDGB2) (MedGen UID: 461766) and type C2 (MDDGC2) (MedGen UID: 461768).

PPT1

The PPT1 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis 1 (CLN1) (MedGen UID: 340540).

PRDM12

The PRDM12 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary sensory and autonomic neuropathy type VIII (PMID: 26005867).

PRDM16

The PRDM16 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (MedGen UID: 349005) and dilated cardiomyopathy (DCM) (OMIM: 615373).

PRDM8

The PRDM8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive progressive myoclonic epilepsy (PMID: 22961547).

PREPL

The PREPL gene is associated with autosomal recessive congenital myasthenic syndrome 22 (CMS22) (MedGen UID: 1393545). Additionally, contiguous deletions of the PREPL and SLC3A1 genes are associated with autosomal recessive hypotonia-cystinuria syndrome (PMID: 16385448).

PRICKLE1

The PRICKLE1 gene is associated with autosomal recessive progressive myoclonic epilepsy with ataxia (MedGen UID: 394003).

PRICKLE2

The PRICKLE2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant progressive myoclonic epilepsy 5 (PMID: 21276947, 23711981).

PRIMA1

The PRIMA1 gene is associated with autosomal recessive nocturnal frontal lobe epilepsy (PMID: 26339676).

PRKAG2

The PRKAG2 gene is associated with autosomal dominant glycogen storage related Wolff-Parkinson-White syndrome (MedGen UID: 12162) with or without hypertrophic cardiomyopathy (HCM) (MedGen UID: 331466).

PRKN

The PRKN gene (formerly known as PARK2) is associated with autosomal recessive early-onset Parkinson’s disease 2 (PARK2) (MedGen UID: 401500).

PRKRA

The PRKRA gene is associated with autosomal recessive dystonia 16 (DYT16) (MedGen UID: 436979).

PRNP

The PRNP gene is associated with a spectrum of autosomal dominant neurodegenerative disorders including Creutzfeldt-Jakob disease (CJD) (MedGen UID: 7179), Gerstmann-Straussler-Scheinker (GSS) syndrome (MedGen UID: 4886), and fatal familial insomnia (FFI) (MedGen UID: 104768), collectively known as genetic prion diseases.

PRPS1

The PRPS1 gene is associated with a spectrum of X-linked conditions including Charcot-Marie-Tooth disease type 5 (CMTX5) (MedGen UID: 374254), Arts syndrome (MedGen UID: 163205), phosphoribosylpyrophosphate synthetase (PRS) superactivity (MedGen UID: 370358), and congenital sensorineural deafness type 1 (DFNX1) (MedGen UID: 336749).

PRRT2

The PRRT2 gene is associated with a spectrum of related autosomal dominant neurological conditions (MedGen UID: 358268) including episodic kinesigenic dyskinesia 1 (EKD1), benign familial infantile seizures 2 (BFIS2), and familial infantile convulsions with paroxysmal choreoathetosis (ICCA).

PRX

The PRX gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4F (CMT4F) (MedGen UID: 761704).

PSEN1

The PSEN1 gene is associated with autosomal dominant Alzheimer disease type 3 (AD3) (MedGen UID: 334304). Additionally, the PSEN1 gene has preliminary evidence supporting a correlation with autosomal dominant familial acne inversa type 3 (ACNINV3) (MedGen UID: 462388), dilated cardiomyopathy (MedGen UID: 463620), and frontotemporal dementia (FTD) (MedGen UID: 83266, 116020).

PSEN2

The PSEN2 gene is associated with autosomal dominant Alzheimer’s disease type 4 (AD4) (MedGen UID: 376072).

PTCH1

The PTCH1 gene is associated with autosomal dominant basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (MedGen UID: 2554). Additionally, the PTCH1 gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (HPE) (MedGen: 372134).

PTEN

The PTEN gene is associated with autosomal dominant PTEN hamartoma tumor syndrome (PHTS) including the clinical subtypes of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and PTEN-related autism spectrum disorder (MedGen UID: 368366). Other PTEN-associated conditions have been described (PMID: 11755638, 17392703, 27890237).

PURA

The PURA gene is associated with autosomal dominant PURA syndrome (MedGen UID: 1634675), early infantile epileptic encephalopathy (MedGen UID: 1564287) and autosomal dominant intellectual disability (MedGen UID: 863794).

Q
QARS

The QARS gene is associated with autosomal recessive progressive microcephaly with seizures and cerebral and cerebellar atrophy (MedGen UID: 862676).

R
RAB3GAP2

The RAB3GAP2 gene is associated with autosomal recessive Warburg micro syndrome 2 (WARBM2) (MedGen UID: 481844) and Martsolf syndrome (MedGen UID: 208658). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (HSP) (PMID: 24482476).

RAB7A

The RAB7A gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) (MedGen UID: 371512).

RAF1

The RAF1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 370589), Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 370588), and dilated cardiomyopathy (MedGen UID: 807537).

RANBP2

The RANBP2 gene is associated with autosomal dominant infection-induced acute necrotizing encephalopathy (MedGen UID: 382634).

RAPSN

The RAPSN gene is associated with autosomal recessive congenital myasthenic syndrome 11 (CMS11) (MedGen UID: 323066) and fetal akinesia deformation sequence (FADS) (MedGen UID: 220903).

RBFOX1

The RBFOX1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 23350840, 24039908, 25950944, 26174448).

RBFOX3

The RBFOX3 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 24603971, 24039908).

RBM20

The RBM20 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 416441).

REEP1

The REEP1 gene is associated with autosomal dominant hereditary spastic paraplegia 31 (SPG31) (MedGen UID: 377858) and distal hereditary motor neuropathy 5B (HMN5B) (MedGen UID: 766570).

REEP2

The REEP2 gene is associated with autosomal recessive and autosomal dominant hereditary spastic paraplegia 72 (SPG72) (MedGen UID:816490).

RELN

The RELN gene is associated with autosomal recessive lissencephaly (MedGen UID: 163213) and autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 907609).

REPS1

The REPS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with neurodegeneration with brain iron accumulation (MedGen UID: 1647672).

RETREG1

The RETREG1 gene (formerly known as FAM134B) is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 2B (HSAN2B) (MedGen UID: 413474).

ROGDI

The ROGDI gene is associated with autosomal recessive Kohlschutter syndrome (MedGen UID: 98036).

RTN2

The RTN2 gene is associated with autosomal dominant hereditary spastic paraplegia 12 (MedGen UID: 347618).

RXYLT1

The RXYLT1 gene (formerly known as TMEM5) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) (MedGen UID: 767295).

RYR1

The RYR1 gene is associated with autosomal dominant and recessive central core disease (CCD) (MedGen UID: 199773), autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177), and autosomal recessive multiminicore disease (MmD) (MedGen UID: 388775). It is also associated with autosomal dominant centronuclear myopathy (CNM) (MedGen UID: 799613) and malignant hyperthermia susceptibility type 1 (MHS1) (MedGen UID: 833963). The RYR1 gene also has preliminary evidence supporting a correlation with periodic paralysis (PMID: 29298851).

RYR2

The RYR2 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 351513), arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 318748) and left ventricular noncompaction (LVNC) (PMID: 24394973).

RYR3

The RYR3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant epileptic encephalopathy (PMID: 25262651).

S
SACS

The SACS gene is associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (MedGen UID: 338620).

SATB2

The SATB2 gene is associated with autosomal dominant Glass syndrome (MedGen UID: 436765).

SBF2

The SBF2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B2 (CMT4B2) (MedGen UID: 346869).

SCARB2

The SCARB2 gene is associated with autosomal recessive progressive myoclonic epilepsy, with or without renal failure (MedGen UID: 155629).

SCN10A

The SCN10A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant small fiber neuropathy (SFNP) (PMID: 23986244) and Brugada syndrome (BrS) (PMID: 24998131).

SCN11A

The SCN11A gene is associated with autosomal dominant hereditary sensory and autonomic neuropathy type 7 (HSAN7) (MedGen UID: 816212) and familial episodic pain syndrome type 3 (FEPS3) (MedGen UID: 816229).

SCN1A

The SCN1A gene is associated with a spectrum of autosomal dominant seizure disorders ranging from simple febrile seizures (MedGen UID: 338959) and genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 388117) to Dravet syndrome (MedGen UID: 148243) and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) (MedGen UID: 148243). The SCN1A gene is also associated with autosomal dominant familial hemiplegic migraine 3 (FHM3) (MedGen UID: 400655).

SCN1B

The SCN1B gene is associated with autosomal dominant genetic epilepsy with febrile seizures (MedGen UID: 348994). Additionally, the SCN1B gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 411607), atrial fibrillation (MedGen UID: 334469), cardiac conduction disease (PMID: 18464934) and autosomal recessive early infantile epileptic encephalopathy (PMID: 19710327).

SCN2A

The SCN2A gene is associated with autosomal dominant benign familial neonatal-infantile seizures (BFNIS) (MedGen UID: 375105), early infantile epileptic encephalopathy (EIEE) (MedGen UID: 462337), episodic ataxia (PMID: 20956790, 26645390), intellectual disability (ID) (PMID: 23020937) and autism spectrum disorder (ASD) (PMID: 22495306).

SCN3A

The SCN3A gene is associated with autosomal dominant early infantile epileptic encephalopathy (EIEE) (MedGen UID: 1631233) and childhood onset epilepsy (MedGen UID: 910257).

SCN4A

The SCN4A gene is associated with autosomal dominant hypokalemic periodic paralysis type 2 (HOKPP2) (MedGen UID: 413748), hyperkalemic periodic paralysis (HYPP) (MedGen UID: 442147), paramyotonia congenita (PMC) (MedGen UID: 358367), and potassium-aggravated myotonia (MedGen UID: 156269). It is also associated with autosomal recessive congenital myopathy (PMID:26700687) and there is preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 16 (CMS16) (MedGen UID: 503025).

SCN5A

The SCN5A gene is associated with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 468523), long QT syndrome (LQTS), type 3 (MedGen UID: 349087), dilated cardiomyopathy (DCM) (MedGen UID: 331341) and atrial fibrillation (MedGen UID: 462814). Other SCN5A-related conditions have been reported (OMIM: 600163). For information about the location of a SCN5A variant, please visit www.invitae.com/SCN5A-topology.

SCN8A

The SCN8A gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 482821) and benign familial neonatal seizures (MedGen UID: 934695). Additionally, the SCN8A gene has preliminary evidence supporting a correlation with autosomal dominant dystonia and related disorders (PMID: 29726066, 29356177).

SCN9A

The SCN9A gene is associated with autosomal dominant genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 416629), primary erythermalgia (MedGen UID: 8688), small fiber neuropathy (SFNP) (MedGen UID: 416701), and paroxysmal extreme pain disorder (PEXPD) (MedGen UID: 331565). The SCN9A gene is also associated with autosomal recessive congenital indifference to pain (CIP), also referred to as hereditary sensory and autonomic neuropathy type 2D (HSAN2D) (MedGen UID: 344563).

SCP2

The SCP2 gene is associated with autosomal recessive leukoencephalopathy with dystonia and motor neuropathy (MedGen UID: 462340).

SDHA

The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 481622), gastrointestinal stromal tumors (GIST) (PMID: 21505157, 22974104, 23060355), and autosomal recessive mitochondrial complex II deficiency with or without cardiomyopathy (MedGen UID: 344401). Studies suggest SDHA may also be associated with autosomal dominant susceptibility to renal cancer (PMID: 26722403, 25034258). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

SELENON

The SELENON gene (formerly known as SEPN1) is associated with autosomal recessive multiminicore disease (MmD) (MedGen UID: 388775) and autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).

SEMA3E

The SEMA3E gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with chronic kidney disease, seizures and hypothyroidism (PMID: 30773290).

SERPINI1

The SERPINI1 gene is associated with autosomal dominant familial encephalopathy with neuroserpin inclusion bodies (FENIB) (MedGen UID: 346965)

SETD2

The SETD2 gene is associated with autosomal dominant Luscan-Lumish syndrome (LLS) (MedGen UID: 879950). Additionally, the SETD2 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 24901346, 26084711, 23160955).

SETX

The SETX gene is associated with autosomal recessive spinocerebellar ataxia 1 (SCAR1) (MedGen UID: 340052) and autosomal dominant amyotrophic lateral sclerosis 4 (ALS4) (MedGen UID: 355983).

SGCA

The SGCA gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) (MedGen UID: 334108).

SGCB

The SGCB gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2E (LGMD2E) (MedGen UID: 347674).

SGCD

The SGCD gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) (MedGen UID: 331308). Additionally, the SGCD gene has preliminary evidence supporting a correlation with isolated autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 335735).

SGCE

The SGCE gene is associated with autosomal dominant myoclonic dystonia (DYT11) (MedGen UID: 331778) and autosomal dominant generalized epilepsy (PMID: 15389977, 24297365).

SGCG

The SGCG gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) (MedGen UID: 98045).

SH3TC2

The SH3TC2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4C (CMT4C) (MedGen UID: 356581).

SHH

The SHH gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 327125).

SIGMAR1

The SIGMAR1 gene is associated with autosomal recessive distal spinal muscular atrophy 2 (DSMA2) (MedGen UID: 344189). Additionally, the SIGMAR1 gene has preliminary evidence supporting a correlation with autosomal recessive amyotrophic lateral sclerosis 16 (ALS16) (MedGen UID: 482217).

SIK1

The SIK1 gene is associated with autosomal dominant early infantile epileptic encephalopathy 30 (EIEE30) (MedGen UID: 898954).

SIX3

The SIX3 gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 322517).

SLC12A5

The SLC12A5 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (PMID: 26333769).

SLC13A5

The SLC13A5 gene is associated with autosomal recessive early infantile epileptic encephalopathy type 25 (EIEE25) (MedGen UID: 863058).

SLC16A2

The SLC16A2 gene is associated with X-linked SLC16A2-specific thyroid hormone cell transporter deficiency, also known as hereditary spastic paraplegia 22 (SPG22) and Allan-Herndon-Dudley syndrome (AHDS) (MedGen UID: 208645).

SLC19A3

The SLC19A3 gene is associated with autosomal recessive thiamine metabolism dysfunction syndrome 2 (THMD2), also known as biotin-responsive basal ganglia disease (BBGD) (MedGen UID: 375289).

SLC22A5

The SLC22A5 gene is associated with autosomal recessive primary carnitine deficiency (MedGen UID: 90999).

SLC25A12

The SLC25A12 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (MedGen UID: 414492).

SLC25A22

The SLC25A22 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGenUID: 124373).

SLC25A42

The SLC25A42 gene is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 941419).

SLC25A46

The SLC25A46 gene is associated with autosomal recessive hereditary motor and sensory neuropathy type VIB (HMSN6B) (MedGen UID: 895482).

SLC2A1

The SLC2A1 gene is associated with a spectrum of overlapping autosomal dominant and recessive conditions which fall under the umbrella term of glucose transporter type 1 deficiency syndrome (Glut1 DS) (MedGen UID: 1645412).

SLC33A1

The SLC33A1 gene is associated with autosomal recessive congenital cataracts, hearing loss, and neurodegeneration (MedGen UID: 482595). Additionally, the SLC33A1 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary spastic paraplegia 42 (SPG42) (MedGen UID: 393407).

SLC35A2

The SLC35A2 gene is associated with the X-linked dominant congenital disorder of glycosylation SLC35A2-CDG (CDG-IIm) (MedGen UID 813018).

SLC35A3

The SLC35A3 gene is associated with autosomal recessive arthrogryposis, intellectual disability, and seizures (MedGen UID: 816240).

SLC52A2

The SLC52A2 gene is associated with autosomal recessive riboflavin transporter deficiency neuronopathy (also known as Brown-Vialetto-Van Laere syndrome 2 [BVVLS2]) (MedGen UID: 766452).

SLC52A3

The SLC52A3 gene is associated with autosomal recessive riboflavin transporter deficiency neuronopathy (also known as Brown-Vialetto-Van Laere syndrome 1 [BVVLS1]) (MedGen UID: 881160).

SLC5A7

The SLC5A7 gene is associated with autosomal dominant distal hereditary motor neuropathy 7 (HMN7A) (MedGen UID: 322474) and autosomal recessive congenital myasthenic syndrome 20 (CMS20) (MedGen UID: 934661).

SLC6A1

The SLC6A1 gene is associated with autosomal dominant myoclonic-atonic epilepsy (MAE) (MedGen UID: 834110).

SLC6A3

The SLC6A3 gene is associated with autosomal recessive infantile parkinsonism-dystonia 1 (PKDYS1) (MedGen UID: 1648442).

SLC6A8

The SLC6A8 gene is associated with X-linked recessive creatine transporter deficiency (CTD) (MedGen UID: 337451).

SLC9A6

The SLC9A6 gene is associated with Christianson syndrome, also known as X-linked dominant Angelman-like syndrome, (MedGen UID: 394455).

SMC1A

The SMC1A gene is associated with X-linked dominant Cornelia de Lange syndrome (MedGen UID: 315658) and early infantile epileptic encephalopathy (EIEE) (PMID: 26386245, 27334371, 26358754).

SMCHD1

The SMCHD1 gene is associated with digenic inheritance of facioscapulohumeral muscular dystrophy 2 (FSHD2) (MedGen UID: 320405) with D4Z4 hypomethylation (permissive 4qA allele).

SMN1, SMN2
SMN1, SMN2

The SMN1 gene is associated with autosomal recessive spinal muscular atrophy (SMA) (MedGen UID: 7755). SMN2 can modify the phenotype in individuals with SMN1-related SMA.

SNAP25

The SNAP25 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital myasthenic syndrome (PMID: 25381298) and early infantile epileptic encephalopathy (PMID: 26795593, 25003006, 29100083).

SNCA

The SNCA gene is associated with autosomal dominant Parkinson’s disease 1 (PARK1) (MedGen UID: 357008), Parkinson’s disease 4 (PARK4) (MedGen UID: 381361), and dementia with Lewy bodies (DLB) (MedGen UID: 199874).