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Clinical Area: Neurology
Clinical Area: Pediatric and Rare Disease
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The AARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) (MedGen UID: 413754). The AARS gene also has preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy 29 (EIEE29) (MedGen UID: 833802).
The ABAT gene is associated with autosomal recessive GABA-transaminase (GABA-T) deficiency (PMID: 20052547).
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).
The ABCD1 gene is associated with X-linked adrenoleukodystrophy (X-ALD) (MedGen UID: 57667).
The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 854382).
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).
The ACTB gene is associated with autosomal dominant Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 340943) and juvenile-onset dystonia (PMID: 28487785, 27862284, 16685646).
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).
The ACTG1 gene is associated with autosomal dominant deafness (MedGen UID: 346852) and Baraitser-Winter syndrome (MedGen UID: 482865).
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).
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).
The AGL gene is associated with autosomal recessive glycogen storage disease type III (GSD III) (MedGen UID: 6641).
The AGRN gene is associated with autosomal recessive congenital myasthenic syndrome 8 (CMS8) (MedGen UID: 815069).
The AIFM1 gene is associated with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), also known as Chowchock Syndrome (MedGen UID: 162891). In addition, the AIFM1 gene has preliminary evidence supporting a correlation with X-linked combined oxidative phosphorylation deficiency 6 (COXPD6) (PMID: 20362274).
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).
The ALDH5A1 gene is associated with autosomal recessive succinic semialdehyde dehydrogenase (SSADH) deficiency (MedGen UID: 124340).
The ALDH7A1 gene is associated with autosomal recessive pyridoxine-dependent epilepsy (MedGen UID: 340341).
The ALG13 gene is associated with the X-linked congenital disorder of glycosylation ALG13-CDG (CDG-Is) (MedGen UID 763818).
The ALG14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 15 (CMS15) (MedGen UID: 830988).
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).
The ALMS1 gene is associated with autosomal recessive Alstrom syndrome (MedGen UID: 78675).
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).
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).
The AMT gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).
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).
The ANO3 gene is associated with autosomal dominant dystonia 24 (DYT24) (MedGen UID: 767288).
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).
The AP4B1 gene is associated with autosomal recessive hereditary spastic paraplegia 47 (SPG47) (MedGen UID: 481368).
The AP4E1 gene is associated with autosomal recessive hereditary spastic paraplegia 51 (SPG51) (MedGen UID: 462406).
The AP4M1 gene is associated with autosomal recessive hereditary spastic paraplegia 50 (SPG50) (MedGen UID: 442869).
The AP4S1 gene is associated with autosomal recessive hereditary spastic paraplegia 52 (SPG52) (MedGen UID: 481373).
The AP5Z1 gene is associated with autosomal recessive hereditary spastic paraplegia 48 (SPG48) (MedGen UID: 462251).
The APP gene is associated with autosomal dominant Alzheimer’s disease type 1 (AD1) (MedGen UID: 1853) and APP-related cerebral amyloid angiopathy (CAA) (MedGen UID: 414044).
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).
The ARHGEF9 gene is associated with X-linked recessive hereditary hyperekplexia / early infantile epileptic encephalopathy 8 (EIEE8) (MedGen UID: 375581).
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).
The ARSI gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hereditary spastic paraplegia (PMID: 24482476).
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).
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).
The ATL3 gene is associated with autosomal dominant hereditary sensory neuropathy type 1F (HSN1F) (MedGen UID: 816524).
The ATP13A2 gene is associated with autosomal recessive Kufor-Rakeb syndrome (KRS) (MedGen UID: 338281), also known as Parkinson’s disease 9 (PARK9). Additionally, the ATP13A2 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (MedGen UID: 934629) and neuronal ceroid lipofuscinoses (PMID: 22388936).
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).
The ATP1A3 gene is associated with autosomal dominant dystonia 12 (DYT12) (MedGen UID: 358384), cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome (MedGen UID: 318633), and alternating hemiplegia of childhood (AHC) (MedGen UID: 766702).
The ATP2A1 gene is associated with autosomal recessive Brody myopathy (MedGen UID: 371441).
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).
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).
The ATP7B gene is associated with autosomal recessive Wilson Disease (MedGen UID: 42426).
The ATRX gene is associated with Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome (MedGen UID: 337145).
The B3GALNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A11 (MDDGA11) (MedGen UID: 767552).
The B4GALNT1 gene is associated with autosomal recessive hereditary spastic paraplegia 26 (SPG26) (PMID: 23746551).
The B4GAT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A13 (MDDGA13) (MedGen UID: 815372).
The BAG3 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 462643) and myofibrillar myopathy 6 (MFM6) (MedGen UID: 414119).
The BICD2 gene is associated with autosomal dominant spinal muscular atrophy, lower extremity predominant 2 (SMALED2) (MedGen UID: 815379).
The BIN1 gene is associated with autosomal recessive and dominant centronuclear myopathy (MedGen UID: 98049; PMID: 25260562).
The BRAT1 gene is associated with autosomal recessive neonatal-lethal rigidity and multifocal seizure syndrome (RFMSL) (MedGen UID: 482659).
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).
The C12orf57 gene is associated with autosomal recessive Temtamy syndrome (MedGen UID: 347474).
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).
The C19ORF12 gene is associated with autosomal recessive neurodegeneration with brain iron accumulation 4(NBIA4) (MedGen UID: 482001). Additionally, the C19ORF12 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 43 (SPG43) (MedGen UID: 760531).
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.
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).
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).
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)
The CACNA2D2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (PMID: 24358150, 23339110).
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).
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).
The CAPN3 gene is associated with autosomal recessive and dominant limb-girdle muscular dystrophy type 2A (LGMD2A) (MedGen UID: 358391; PMID:27259757).
The CARS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency 27 (PMID: 25787132, 25361775).
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).
The CASR gene is associated with a spectrum of disorders including autosomal dominant familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 369200), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), ADH with Bartter syndrome (MedGen UID: 811594), autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326), and possibly an increased risk for familial isolated hyperparathyroidism (FIHP) (PMID: 14985373, 21521328). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624).
The 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).
The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID 462153).
The CCDC78 gene is associated with autosomal dominant centronuclear myopathy 4 (CNM4) (MedGen UID: 766623).
The CCM2 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 400438).
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).
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).
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).
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).
The CFL2 gene is associated with autosomal recessive nemaline myopathy 7 (NEM7) (MedGen UID: 343979).
The CHAT gene is associated with autosomal recessive congenital myasthenic syndrome 6 (CMS6) (MedGen UID: 140751).
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).
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).
The CHD2 gene is associated with autosomal dominant childhood-onset epileptic encephalopathy (MedGen UID: 815608).
The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 102469).
The CHKB gene is associated with autosomal recessive congenital muscular dystrophy, megaconial type (MDCMC) (MedGen UID: 355943).
The CHMP2B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant chromosome 3-linked frontotemporal dementia (FTD3) (MedGen UID: 318833) and amyotrophic lateral sclerosis 17 (ALS17) (MedGen UID: 373010; PMID: 20352044, 16807408).
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).
The CHRNA1 gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 373259, 199759) and autosomal recessive fetal akinesia deformation sequence (FADS) (MedGen UID: 381473).
The CHRNA2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 332082).
The CHRNA4 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 324932).
The CHRNB1 gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 833647, 833664, 373251).
The CHRNB2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 344263).
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).
The CHRNE gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 373251, 344169, 833673).
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).
The CLCN1 gene is associated with autosomal dominant and recessive myotonia congenita (MedGen UID: 422446, 155852).
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).
The TPP1 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 2 (CLN2) (MedGen UID: 406281).
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).
The CLN5 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 5 (CLN5) (MedGen UID: 376792).
The CLN6 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 6 (CLN6) (MedGen UID: 356494).
The CLN8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 8 (CLN8) (MedGen UID: 374004).
The CNTN1 gene is associated with autosomal recessive Compton-North congenital myopathy (MYPCN) (MedGen UID: 393406).
The CNTN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive epilepsy (PMID: 23518707).
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).
The COASY gene is associated with autosomal recessive neurodegeneration with brain iron accumulation (NBIA) 6 (MedGen UID: 816560).
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).
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).
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).
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).
The COLQ gene is associated with autosomal recessive congenital myasthenic syndrome 5 (CMS5) (MedGen UID: 400481).
The COQ4 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 833081).
The CP gene is associated with autosomal recessive ceruloplasmin deficiency (Med Gen UID: 168057).
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).
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).
The CPT2 gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896). One variant in the CPT2 gene is also associated with autosomal dominant CPTII deficiency (PMID: 21913903).
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).
The CSRP3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 429755) and dilated cardiomyopathy (DCM) (MedGen UID: 334498).
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.
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).
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).
The CTSD gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 10 (CLN10) (MedGen UID: 350481).
The CYP2U1 gene is associated with autosomal recessive hereditary spastic paraplegia 56 (SPG56) (MedGen UID: 761343).
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).
The DAG1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A9 (MDDGA9) (MedGen UID: 851332) and type C9 (MDDGC9) (MedGen UID: 462534).
The DCAF17 gene is associated with autosomal recessive Woodhouse-Sakati syndrome (WSS) (MedGen UID: 83337).
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).
The DDHD1 gene is associated with autosomal recessive hereditary spastic paraplegia 28 (SPG28) (MedGen UID: 332174).
The DDHD2 gene is associated with autosomal recessive hereditary spastic paraplegia 54 (SPG54) (MedGen UID: 761341).
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).
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).
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).
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 (DCM) (MedGen UID: 472068).
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).
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).
The DNAJC19 gene is associated with autosomal recessive 3-Methylglutaconic aciduria, type V (MedGen UID: 347542).
The DNAJC5 gene is associated with autosomal dominant neuronal ceroid lipofuscinosis type 4B (CLN4B) (MedGen UID: 320287).
The DNAJC6 gene is associated with autosomal recessive juvenile-onset Parkinson’s disease 19 (PARK19) (MedGen UID: 816141).
The DNM1 gene is associated with autosomal dominant early infantile epileptic encephalopathy 31 (EIEE31) (MedGen UID: 833832).
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). The DNM2 gene also has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome 5 (LCCS5) (MedGen UID: 815602).
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).
The DOCK7 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) 23 (MedGen UID: 862929).
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).
The DOLK gene is associated with the autosomal recessive congenital disorder of glycosylation DOLK-CDG (CDG-Im) (MedGen UID 332072).
The DPAGT1 gene is associated with autosomal recessive DPAGT1-congenital disorder of glycosylation (CDG-Ij) (MedGen UID: 334113) and congenital myasthenic syndrome 13 (CMS13) (MedGen UID: 766559).
The DPM1 gene is associated with autosomal recessive DPM1-congenital disorder of glycosylation (CDG-Ie) (MedGen UID: 324784).
The DPM2 gene is associated with autosomal recessive DPM2-congenital disorder of glycosylation (CDG-Iu) (MedGen UID: 767299).
The DPM3 gene is associated with autosomal recessive DPM3-congenital disorder of glycosylation (CDG-Io) (MedGen UID: 414534).
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).
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).
The DSG2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 347543) and dilated cardiomyopathy (DCM) (MedGen UID: 414552).
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).
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).
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).
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).
The DYRK1A gene is associated with autosomal dominant intellectual disability 7 (IDD7) (MedGen UID: 481469).
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).
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).
The EFHC1 gene is associated with autosomal dominant juvenile myoclonic epilepsy (JME) (MedGen UID: 342587) and juvenile absence epilepsy (JAE) (MedGen UID: 4989).
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). Additionally, the EGR2 gene has preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease type 4E (CMT4E), also known as congenital hypomyelinating neuropathy (MedGen UID: 97965).
The EHMT1 gene is associated with autosomal dominant Kleefstra syndrome (MedGen UID: 208639).
The ELAC2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (MedGen UID: 322999).
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).
The EMD gene is associated with X-linked Emery-Dreifuss muscular dystrophy type 1 (EDMD1) (MedGen UID: 148284).
The ENTPD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia 64 (SPG64) (PMID: 24482476).
The EPM2A gene is associated with autosomal recessive progressive myoclonus epilepsy, Lafora type (MedGen UID: 155631).
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).
The ERLIN2 gene is associated with autosomal recessive hereditary spastic paraplegia 18 (SPG18) (MedGen UID: 442343).
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).
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).
The FA2H gene is associated with autosomal recessive hereditary spastic paraplegia 35 (SPG35) (MedGen UID: 777150).
The FARS2 gene is associated with autosomal recessive early infantile epileptic encephalopathy(EIEE) (PMID: 22833457, 25851414, 27652284).
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).
The FBXO38 gene is associated with autosomal dominant distal hereditary motor neuropathy 2D (HMN2D) (MedGen UID: 777992).
The FBXO7 gene is associated with autosomal recessive Parkinson’s disease 15 (PARK15) (MedGen UID: 337969).
The FGD4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4H (CMT4H) (MedGen UID: 324487).
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).
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).
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).
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).
The FKBP14 gene is associated with autosomal recessive Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) (MedGen UID: 482790).
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), and dilated cardiomyopathy (DCM) (MedGen UID:2880).
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), and dilated cardiomyopathy (DCM) (MedGen UID: 370583).
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).
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).
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).
The FOLR1 gene is associated with autosomal recessive cerebral folate deficiency (MedGen UID: 442763).
The FOXG1 gene is associated with autosomal dominant congenital / atypical Rett syndrome (MedGen UID: 462055).
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).
The FRRS1L gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (MedGen UID: 881218).
The FTL gene is associated with autosomal dominant neurodegeneration with brain iron accumulation 3 (NBIA3) (MedGen UID: 381211) and hereditary hyperferritinemia-cataract syndrome (HHCS) (MedGen UID: 318812). Additionally, the FTL gene has preliminary evidence supporting a correlation with L-ferritin deficiency (PMID: 23940258, 15173247).
The FUCA1 gene is associated with autosomal recessive fucosidosis (MedGen UID: 5288)
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).
The GAA gene is associated with autosomal recessive glycogen storage disease type II (GSDII), also known as Pompe disease (MedGen UID: 5340).
The GABBR2 gene is associated with autosomal dominant early infantile epileptic encephalopathy (EIEE) (MedGen UID: 1511313) and Rett syndrome (PMID: 28856709).
The GABRA1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 483052), childhood absence epilepsy (MedGen UID: 369671), and juvenile myoclonic epilepsy (MedGen UID: 442345).
The GABRA6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant childhood absence epilepsy (PMID: 19429026, 21930603).
The GABRB2 gene is associated with autosomal dominant intellectual disability and epilepsy (PMID: 27622563, 27789573, 29100083).
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).
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).
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).
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).
The GAMT gene is associated with autosomal recessive guanidinoacetate methyltransferase (GAMT) deficiency (MedGen UID: 154356).
The GAN gene is associated with autosomal recessive giant axonal neuropathy 1 (GAN1) (MedGen UID: 376775).
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).
The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (MedGen UID: 21498), ventricular septal defects (MedGen UID: 482407), atrial septal defects (MedGen UID: 334249), and atrioventricular septal defects (MedGen UID: 482411). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700).
The GATA6 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), atrial septal defects (MedGen UID: 482573), atrioventricular septal defects (MedGen UID: 482569), persistent truncus arteriosus (MIM: 217095), congenital heart defects with pancreatic agenesis (MIM: 600001), dilated cardiomyopathy (DCM) (PMID: 25119427), and atrial fibrillation (MedGen UID: 481323).
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).
The GATM gene is associated with autosomal recessive cerebral creatine deficiency syndrome due to arginine:glycine amidinotransferase (AGAT) deficiency (MedGen UID: 436367).
The GBA2 gene is associated with autosomal recessive hereditary spastic paraplegia 46 (SPG46) (MedGen UID: 473687).
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).
The GCSH gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).
The GDAP1 gene is associated with autosomal recessive and dominant forms of Charcot-Marie-Tooth (CMT) disease (MedGen UID: 347821, 375064, 334012, 375113).
The GFPT1 gene is associated with autosomal recessive congenital myasthenic syndrome 12 (CMS12) (MedGen UID: 350478).
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).
The GJC2 gene is associated with autosomal recessive hereditary spastic paraplegia 44 (SPG44) (MedGen UID: 413042) and hypomyelinating leukodystrophy 2 (HLD2) (MedGen UID: 325157), which is sometimes referred to as Pelizaeus-Merzbacher-like disease. The GJC2 gene is also associated with autosomal dominant hereditary primary lymphedema (MedGen UID: 462082).
The GLA gene is associated with X-linked Fabry disease (MedGen UID: 8083).
The GLDC gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).
The GLI2 gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 324369) and Culler-Jones syndrome (CJS) (MedGen UID: 862916).
The GLRA1 gene is associated with autosomal dominant and autosomal recessive hyperekplexia 1 (HKPX1) (MedGen UID: 332019).
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).
The GNAL gene is associated with autosomal dominant dystonia 25 (DYT25) (MedGen UID: 767361).
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).
The GNB4 gene is associated with dominant intermediate Charcot-Marie-Tooth disease type F (CMTDIF) (MedGen UID: 767568).
The GNE gene is associated with autosomal recessive GNE-related myopathy (MedGen UID: 322174) and autosomal dominant sialuria (MedGen UID: 137980).
The GOSR2 gene is associated with autosomal recessive progressive myoclonic epilepsy (MedGen UID: 481257).
The GPHN gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340761). Additionally, the GPHN gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26613940, 24561070).
The GRIN1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (PMID: 25864721, 23934111) and autosomal dominant intellectual disability (MedGen UID: 481912).
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).
The GRIN2B gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 830511) and autosomal dominant intellectual disability (MedGen UID: 462761).
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).
The GYS1 gene is associated with autosomal recessive glycogen synthase deficiency, muscle type (GSD0, muscle form) (MedGen UID: 409741).
The HARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease, type 2W (CMT2W) (MedGen UID: 851839).
The HCN1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 786443).
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).
The HDAC8 gene is associated with X-linked Cornelia de Lange syndrome (MedGen UID: 78752) and syndromic intellectual disability (ID) (PMID: 22889856, 29519750).
The HEXA gene is associated with autosomal recessive hexosaminidase A (HEXA) deficiency, also known as Tay-Sachs disease (MedGen UID: 11713).
The HINT1 gene is associated with autosomal recessive neuromyotonia and axonal neuropathy (NMAN) (MedGen UID: 449355).
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).
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).
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).
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).
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).
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).
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).
The HSPD1 gene is associated with autosomal dominant hereditary spastic paraplegia 13 (SPG13) (MedGen UID: 344289). Additionally, the HSPD1 gene has preliminary evidence supporting a correlation with autosomal recessive hypomyelinating leukodystrophy 4 (HLD4), also known as MitCHAP60 disease (Medgen UID: 383026).
The IBA57 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia 74 (PMID: 25609768) and multiple mitochondrial dysfunctions syndrome 3 (PMID: 25971455, 23462291).
The IER3IP1 gene is associated with autosomal recessive microcephaly, epilepsy, and diabetes syndrome (MEDS) (MedGen UID: 481870).
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).
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).
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).
The IQSEC2 gene is associated with X-linked intellectual disability (MedGen UID: 444070).
The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 807556).
The ITGA7 gene is associated with autosomal recessive congenital muscular dystrophy due to integrin alpha-7 deficiency (MedGen UID: 413044).
The ITPA gene is associated with autosomal recessive inosine triphosphate pyrophosphohydrolase (ITPase) deficiency (MedGen UID: 333499).
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).
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).
The JUP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 409749) and autosomal recessive Naxos disease (MedGen UID: 321991).
The KANSL1 gene is associated with autosomal dominant Koolen-de Vries syndrome (MedGen UID: 355853).
The KBTBD13 gene is associated with autosomal dominant nemaline myopathy 6 (NEM6) (MedGen UID: 373095).
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).
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).
The KCNB1 gene is associated with autosomal dominant early infantile epileptic encephalopathy 26 (PMID: 25164438, 26648591).
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).
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).
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.
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).
The KCNJ10 gene is associated with autosomal recessive SeSAME syndrome (MedGen UID: 411243).
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).
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).
The KCNQ2 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 342266) and early infantile epileptic encephalopathy (MedGen UID: 462336).
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).
The KCNT1 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 767220) and early infantile epileptic encephalopathy (MedGen UID: 767109).
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).
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).
The KDM5C gene is associated with X-linked intellectual disability, Claes-Jensen type (MedGen UID: 335139).
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).
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).
The KIF1C gene is associated with autosomal recessive hereditary spastic paraplegia (MedGen UID: 370750).
The KIF5A gene is associated with autosomal dominant hereditary spastic paraplegia 10 (SPG10) (MedGen UID: 349003), amyotrophic lateral sclerosis 25 (ALS25) (MedGen UID: 1534540), and intractable neonatal myoclonus (MedGen UID: 934625).
The KLHL40 gene is associated with autosomal recessive nemaline myopathy 8 (NEM8) (MedGen UID: 815539).
The KLHL41 gene is associated with autosomal recessive nemaline myopathy 9 (NEM9) (MedGen UID: 816714).
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).
The KRIT1 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 349362).
The L1CAM gene is associated with X-linked L1 Syndrome (MedGen UID: 798627), 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).
The LAMA2 gene is associated with autosomal recessive LAMA2-related muscular dystrophy (LAMA2 MD) (MedGen UID: 468394).
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).
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).
The LAMP2 gene is associated with X-linked Danon disease (MedGen UID: 209235).
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).
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).
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).
The LGI1 gene is associated with autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 325326).
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).
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).
The LITAF gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1C (CMT1C) (MedGen UID: 331363).
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).
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).
The LMOD3 gene is associated with autosomal recessive nemaline myopathy 10 (NEM10) (MedGen UID: 830573).
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).
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).
The LRRK2 gene is associated with autosomal dominant Parkinson’s disease 8 (PARK8) (MedGen UID: 339628).
The LRSAM1 gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2P (CMT2P) (MedGen UID: 482427).
The MAG gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia (PMID: 24482476, 26179919).
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: 21026), collectively known as MAPT-related tauopathies. Additionally, the MAPT gene has preliminary evidence supporting a correlation with susceptibility to late-onset Parkinson’s disease (MedGen UID: 463618) and with autosomal recessive Parkinson-dementia syndrome (MedGen UID: 337962; PMID: 11220749, 14991829).
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).
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).
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).
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.
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).
The MED25 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 2B2 (CMT2B2) (MedGen UID: 381352).
The MEF2C gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 462050).
The MEGF10 gene is associated with autosomal recessive early-onset myopathy, areflexia, respiratory distress and dysphasia (EMARDD) (MedGen UID: 482309).
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).
The MFSD8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 7 (CLN7) (MedGen UID: 325457).
The MORC2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2Z (CMT2Z) (MedGen UID: 907298).
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: 334363), 2J (CMT2J) (MedGen UID: 375107), and dominant intermediate Charcot-Marie-Tooth disease (DI-CMTD) (MedGen UID: 334318).
The MTM1 gene is associated with X-linked centronuclear myopathy (XLCNM) (MedGen UID: 98374).
The MTMR2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B1 (CMT4B1) (MedGen UID: 321947).
The MTO1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (MedGen UID: 766443).
The MTOR gene is associated with autosomal dominant Smith-Kingsmore syndrome (MedGen UID: 899689). Additionally, the MTOR gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23934111).
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).
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).
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).
The MYH2 gene is associated with autosomal dominant and recessive inclusion body myopathy type 3 (MYPOP) (MedGen UID: 381340).
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).
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).
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).
The MYL3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 324806) and autosomal recessive restrictive cardiomyopathy (RCM) (PMID: 12021217).
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).
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).
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).
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).
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).
The NDRG1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4D (CMT4D) (MedGen UID: 371304).
The NEB gene is associated with autosomal recessive nemaline myopathy 2 (NEM2) (MedGen UID: 342534).
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).
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).
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).
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).
The NEXMIF gene, formerly known as KIAA2022, is associated with X-linked intellectual disability 98 (IDX98) (MedGen UID: 813060).
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).
The NGF gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 5 (HSAN5) (MedGen UID: 6916).
The NGLY1 gene is associated with autosomal recessive NGLY1-congenital disorder of glycosylation (CDG-Iv) (MedGen UID 815321).
The NHLRC1 gene is associated with autosomal recessive progressive myoclonic epilepsy (Lafora disease) (MedGen UID: 155631).
The NIPA1 gene is associated with autosomal dominant hereditary spastic paraplegia 6 (SPG6) (MedGen UID: 324965).
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).
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).
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).
The NPRL3 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 934675).
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).
The NT5C2 gene is associated with autosomal recessive hereditary spastic paraplegia 45 (SPG45) (MedGen UID: 395641).
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).
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-CDG (PMID: 25066056).
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).
The PACS1 gene is associated with autosomal dominant intellectual disability 17 (ID17) (MedGen UID: 767257).
The PANK2 gene is associated with autosomal recessive pantothenate kinase-associated neurodegeneration (PKAN) (MedGen UID: 6708).
The PARK7 gene (previously known as DJ1) is associated with autosomal recessive Parkinson’s disease 7 (PARK7) (MedGen UID: 344049).
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).
The PDCD10 gene is associated with autosomal dominant cerebral cavernous malformations (MedGen UID: 355121).
The PDK3 gene is associated with X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) (MedGen UID: 813037).
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).
The PFN1 gene is associated with autosomal dominant amyotrophic lateral sclerosis 18 (ALS18) (MedGen UID: 766633).
The PGAP1 gene is associated with autosomal recessive intellectual disability (MedGen UID: 777028). Additionally, the PGAP1 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 24482476).
The PIGA gene is associated with X-linked recessive multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) (MedGen UID: 477139).
The PIGG gene is associated with autosomal recessive PIGG-congenital disorder of glycosylation (PMID: 26996948, 28581210).
The PIGN gene is associated with autosomal recessive multiple congenital anomalies-hypotonia-seizures syndrome 1 (MedGen UID: 481405).
The PIGO gene is associated with autosomal recessive hyperphosphatasia with intellectual disability syndrome (MedGen UID: 766551).
The PIGQ gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive seizure disorder (PMID: 24463883).
The PIK3AP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with infantile spasms (PMID: 25262651).
The PINK1 gene is associated with autosomal recessive early-onset Parkinson’s disease 6 (PARK6) (MedGen UID: 342982).
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).
The PLA2G6 gene is associated with autosomal recessive neurodegeneration with brain iron accumulation (NBIA) (MedGen UID: 448017), neuroaxonal dystrophy (MedGen UID: 82852), and dystonia-parkinsonism (MedGen UID: 414488).
The PLCB1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 462338).
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).
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).
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).
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).
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).
The PMP22 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1A (CMT1A) (MedGen UID: 75727), CMT type 1E (CMT1E) (MedGen UID: 348419), and hereditary neuropathy with liability to pressure palsies (HNPP) (MedGen UID: 98291). Other PMP22-related disorders have also been reported (OMIM# 601097).
The PNKD gene is associated with autosomal dominant familial paroxysmal nonkinesigenic dyskinesia (PNKD) (MedGen UID: 401504).
The PNKP gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 462017) and ataxia with oculomotor apraxia (PMID:25728773).
The PNPLA2 gene is associated with autosomal recessive neutral lipid storage disease with myopathy (NLSDM) (MedGen UID: 339913).
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).
The PNPO gene is associated with autosomal recessive pyridoxal 5’-phosphate-dependent epilepsy (MedGen UID: 350498).
The POLG gene is associated with a spectrum of related autosomal recessive conditions (MedGen UID: 60012) including mitochondrial DNA depletion syndrome 4A (Alpers type; MTDPS4A), mitochondrial DNA depletion syndrome 4B (MNGIE type; MTDPS4B), sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), spinocerebellar ataxia with epilepsy (SCAE), and progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOB1). In addition, the POLG gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1)(MedGen UID: 371919).
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).
The POMGNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A8 (MDDGA8) (MedGen UID: 766727).
The POMK gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A12 (MDDGA12) (MedGen UID: 815294) and type C12 (MDDGC12) (MedGen UID: 808099).
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).
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).
The PPT1 gene is associated with autosomal recessive forms of neuronal ceroid lipofuscinosis 1 (CLN1) (MedGen UID: 340540).
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).
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).
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).
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).
The PRICKLE1 gene is associated with autosomal recessive progressive myoclonic epilepsy with ataxia (MedGen UID: 394003).
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).
The PRIMA1 gene is associated with autosomal recessive nocturnal frontal lobe epilepsy (PMID: 26339676).
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).
The PRKN gene (formerly known as PARK2) is associated with autosomal recessive early-onset Parkinson’s disease 2 (PARK2) (MedGen UID: 401500).
The PRKRA gene is associated with autosomal recessive dystonia 16 (DYT16) (MedGen UID: 436979).
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.
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), and X-linked deafness type 1 (DFNX1) (MedGen UID: 65923).
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).
The PRX gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4F (CMT4F) (MedGen UID: 761704).
The PSEN1 gene is associated with autosomal dominant Alzheimer’s disease type 3 (AD3) (MedGen UID: 334304) and familial acne inversa type 3 (ACNINV3) (MedGen UID: 462388). Additionally, the PSEN1 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (MedGen UID: 463620) and frontotemporal dementia (FTD) (MedGen UID: 83266; PMID: 11094121).
The PSEN2 gene is associated with autosomal dominant Alzheimer’s disease type 4 (AD4) (MedGen UID: 376072).
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).
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).
The PURA gene is associated with autosomal dominant intellectual disability 31 (IDD31) and with neonatal hypotonia, seizures, and encephalopathy (MedGen UID: 830571; PMID: 25439098).
The QARS gene is associated with autosomal recessive progressive microcephaly with seizures and cerebral and cerebellar atrophy (MedGen UID: 776944).
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).
The RAB7A gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) (MedGen UID: 371512).
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).
The RANBP2 gene is associated with autosomal dominant infection-induced acute necrotizing encephalopathy (MedGen UID: 382634).
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).
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).
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).
The RBM20 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 416441).
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).
The REEP2 gene is associated with autosomal recessive and autosomal dominant hereditary spastic paraplegia 72 (SPG72) (MedGen UID:816490).
The RELN gene is associated with autosomal recessive lissencephaly (MedGen UID: 163213) and autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 907609).
The RETREG1 gene (formerly known as FAM134B) is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 2B (HSAN2B) (MedGen UID: 413474).
The ROGDI gene is associated with autosomal recessive Kohlschutter syndrome (MedGen UID: 98036).
The RTN2 gene is associated with autosomal dominant hereditary spastic paraplegia 12 (MedGen UID: 347618).
The RXYLT1 gene (formerly known as TMEM5) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) (MedGen UID: 767295).
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).
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).
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).
The SACS gene is associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (MedGen UID: 338620).
The SATB2 gene is associated with autosomal dominant Glass syndrome (MedGen UID: 436765).
The SBF2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B2 (CMT4B2) (MedGen UID: 346869).
The SCARB2 gene is associated with autosomal recessive progressive myoclonic epilepsy, with or without renal failure (MedGen UID: 155629).
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).
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).
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). Other SCN1A-related conditions have been reported (OMIM: 607208).
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).
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).
The SCN3A gene is associated with autosomal dominant childhood onset epilepsy (PMID: 18242854, 24157691).
The SCN4A gene is associated with autosomal dominant hypokalemic periodic paralysis type 2 (HOKPP2) (MedGen