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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 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), dilated cardiomyopathy (DCM) (MedGen UID: 325268), Brugada syndrome (BrS) (PMID: 24439875), and atrial fibrillation (MedGen UID: 481325).
The ABCD1 gene is associated with X-linked adrenoleukodystrophy (ALD) (MedGen UID: 57667).
The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 87459).
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). Additionally, the ACTB gene has preliminary evidence supporting a correlation with juvenile-onset dystonia (PMID: 25052316, 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).
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) and X-linked combined oxidative phosphorylation deficiency 6 (COXPD6) (OMIM: 300816).
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 pyrroline-5-carboxylate synthase (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: 831266). Additionally, the ALG2 gene has preliminary evidence supporting a correlation with autosomal recessive ALG2-congenital disorder of glycosylation (CDG-Ii).
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: 799238). Additionally, the AMPD2 gene has preliminary evidence supporting a correlation with spastic paraplegia 63 (SPG63) (PMID: 24482476).
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 (LGDM2L) (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:909889) and neuronal ceroid lipofuscinoses (PMID: 22388936).
The ATP1A2 gene is associated with autosomal dominant familial hemiplegic migraine (MedGen UID: 355962).
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 ATP6AP2 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant X-linked intellectual disability with epilepsy (PMID: 15746149).
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 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 centronuclear myopathy 2 (CNM2) (MedGen UID: 98049). Dominant inheritance has also been reported (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 CACNA1A-related conditions, which include autosomal dominant episodic ataxia type 2 (EA2) (MedGen UID: 314039), familial hemiplegic migraine type 1 (FHM1) (MedGen UID: 331389), and spinocerebellar ataxia 6 (SCA6) (MedGen UID: 148458).
The CACNA1C gene is associated with autosomal dominant Timothy syndrome, also known as long QT syndrome (LQTS) type 8 (MedGen UID: 331395), Brugada syndrome (BrS) (MedGen UID: 395633), and short QT syndrome (SQTS) (MedGen UID: 378835).
The CACNA1H gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant generalized epilepsy syndromes (PMID: 12891677, 15048902 , 17696120).
The CACNA1S gene is associated with autosomal dominant malignant hyperthermia susceptibility (MHS) (MedGen UID: 418958) and autosomal dominant hypokalemic periodic paralysis (HOKPP) (MedGen UID: 468371).
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 limb-girdle muscular dystrophy type 2A (LGMD2A) (MedGen UID: 358391).
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 autosomal dominant familial isolated hyperparathyroidism (FIHP) (PMID: 14985373), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), benign familial hypocalciuric hypercalcemia (BFHH) (MedGen UID: 369200), and autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624).
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 (HSP) (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).
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 UIDs: 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 currently has no well-established disease association; however, there is limited evidence supporting a correlation with X-linked early infantile epileptic encephalopathy (PMID: 23647072) and X-linked intellectual disability (PMID: 25644381).
The CLN2 gene (also known as TPP1) is associated with autosomal recessive neuronal ceroid lipofuscinosis type 2 (MedGen UID: 406281).
The CLN3 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 3 (CLN3) (MedGen UID: 155549).
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 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation 6 (NBIA6) (MedGen UID: 816560).
The COL12A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Bethlem myopathy and autosomal recessive Ullrich congenital muscular dystrophy (PMID: 24334769, 24334604).
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). Additionally, the COQ4 gene has preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy (EIEE) (PMID: 26795593).
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 CPTII gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896).
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 (MedGen UID: 155923), a subtype of progressive myoclonic epilepsy.
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) and 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: 851846). Additionally, the DIAPH1 gene has preliminary evidence supporting a correlation with autosomal dominant deafness 1 (DFNA1) (PMID: 9360932, 25342930, 22938506; MedGen UID: 343767).
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: 777148).
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). Additionally, the DNM2 gene has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome (LCCS5) (MedGen UID: 344338).
The DNMT1 gene is associated with autosomal dominant hereditary sensory neuropathy type 1E (HSN1E) (MedGen UID: 481515) and cerebellar ataxia, deafness, and narcolepsy (ADCADN) (MedGen UID: 347726).
The DOCK7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy 23 (EIEE23) (PMID: 24814191).
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) and limb-girdle muscular dystrophy type 2B (LGMD2B) (MedGen UID: 338149), collectively known as the dysferlinopathies (MedGen UID: 419874). Other DYSF-related conditions have also been reported (OMIM: 606768).
The EEF1A2 gene is associated with autosomal dominant early infantile epileptic encephalopathy 33 (EIEE33) (MedGen UID: 834052).
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 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 EMD gene is associated with X-linked Emery-Dreifuss muscular dystrophy (EDMD) (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 hereditary spastic paraplegia (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).
The EYA4 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) with hearing loss (MedGen UID: 343105). 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 FAM134B gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 2B (HSAN2B) (MedGen UID: 413474).
The FARS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency (PMID: 22499341, 22833457, 25851414).
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 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). Additionally, the FIG4 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 11 (ALS11) (PMID: 19118816; MedGen UID: 393399).
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 Ehlers-Danlos syndrome (EDS) with periventricular heterotopia (MedGen UID: 375610) and cardiac vavlular dysplasia (MedGen UID: 78083). Other FLNA-related conditions have also been reported (OMIM: 300017).
The FLNC gene is associated with autosomal dominant myofibrillar myopathy 5 (MFM5) (MedGen UID: 372186), distal myopathy 4 (MPD4) (MedGen UID: 481352), and dilated cardiomyopathy (PMID: 25633252, 27908349). Additionally, the FLNC gene has preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (PMID: 25351925) 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 37 (EIEE37) (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 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant epileptic encephalopathy (PMID: 25262651).
The GABRA1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 483052), childhood absence epilepsy (MedGen UID: 369671), and juvenile myoclonic epilepsy (MedGen UID: 442345).
The GABRA6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant childhood absence epilepsy (PMID: 19429026, 21930603).
The GABRB2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant intellectual disability and epilepsy (PMID: 25124326).
The GABRB3 gene is associated 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 generalized epilepsy with febrile seizures plus, type 5 (GEFSP5), idiopathic generalized epilepsy 10 (EIG10), and susceptibility to juvenile myoclonic epilepsy 7 (EJM7) (PMID: 15115768, 16023832).
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 cerebral creatine deficiency syndrome (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), atrioventricular septal defects (MedGen UID: 482411). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700).
The GATA6 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), atrial septal defects (MedGen UID: 482573), atrioventricular septal defects (MedGen UID: 482569), persistent truncus arteriosus (MIM: 217095), congenital heart defects with pancreatic agenesis (MIM: 600001), and dilated cardiomyopathy (DCM) (PMID: 25119427).
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 (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 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 autosomal dominant primary lymphadema (MedGen UID: 462082).
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 pituitary abnormalities with or without additional features (MedGen UID: 786407).
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). Additionally, the GMPPB gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 26133662).
The GNAO1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 815936).
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 complementation group C (MOCODC) (MedGen UID: 340761). Additionally, the GPHN gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26613940, 24561070).
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 autosomal dominant focal epilepsy with speech disorder, with or without intellectual disability (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 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), Brugada syndrome (BrS) (MedGen UID: 413928), and sinus node dysfunction or bradycardia (MedGen UID: 320273).
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 (LGMD) (PMID: 24647604).
The HNRNPU gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23934111, 24885232, 22975012, 22678713, 21800092) and autosomal dominant intellectual disability (PMID: 22678713, 25356899).
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) and autosomal recessive hypomyelinating leukodystrophy 4 (HLD4), also known as MitCHAP-60 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 IKBKAP gene is associated with autosomal recessive familial dysautonomia, also known as hereditary sensory and autonomic neuropathy type 3 (HSAN3) (MedGen UID: 41678).
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 (FSGS) (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 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Rett syndrome and intellectual disability (PMID: 26181491).
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).
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).
The KCNA2 gene is associated with autosomal dominant early infantile epileptic encephalopathy 32 (EIEE32) (MedGen UID: 833891).
The KCNB1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy 26 (PMID: 25164438, 26648591).
The KCNC1 gene is associated with autosomal dominant progressive myoclonic epilepsy 7 (PME7) (MedGen UID: 830625).
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), short QT syndrome (SQTS) (MedGen UID: 355891) and Brugada syndrome (BrS) (MedGen UID: 222975).
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 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant generalized epilepsy and paroxysmal dyskinesia (PMID:15937479).
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).
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 KIAA2022 gene is associated with X-linked intellectual disability 98 (IDX98) (MedGen UID: 813060).
The KIF1A gene is associated with autosomal recessive hereditary sensory neuropathy type 2C (HSN2C) (MedGen UID: 481798) and autosomal recessive and dominant spastic paraplegia 30 (SPG30) (MedGen UID: 372152). The KIF1A gene is also associated with autosomal dominant intellectual disability 9 (ID9) (MedGen UID: 481913).
The KIF1B gene has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes (MedGen UID: 313270).
The KIF1C gene is associated with autosomal recessive hereditary spastic paraplegia (HSP) (MedGen UID: 370750).
The KIF5A gene is associated with autosomal dominant hereditary spastic paraplegia 10 (SPG10) (MedGen UID: 349003).
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 (MDC1A) (MedGen UID: 224728).
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 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked congenital lethal motor neuron disease (PMID: 24647030).
The LDB3 gene 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), autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) (MedGen UID: 320400), congenital muscular dystrophy (MedGen UID: 413043), and dilated cardiomyopathy (DCM) (MedGen UID: 258500). It is also associated with autosomal recessive Charcot-Marie-Tooth disease type 2B1 (CMT2B1) (MedGen UID: 343064). Additional LMNA-related 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 (PMID: 21471202) and congenital myasthenic syndrome (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 recessive and dominant 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 dominant Rett syndrome / atypical Rett syndrome (MedGen UID: 48441) and X-linked intellectual disability (MedGen UID: 337496).
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 MEF2C-related 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 autosomal recessive Charcot-Marie-Tooth disease type 2A2 (MedGen UID: 373098).
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 2 (CMT2Z) (MedGen UID: 851963).
The MPZ gene is associated with autosomal dominant 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 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 currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant familial focal epilepsy with variable foci (PMID: 26302787) and early infantile epileptic encephalopathy (PMID: 23934111).
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 recessive inclusion body myopathy type 3 (MYPOP) (MedGen UID: 381340). Additionally, the MYH2 gene has preliminary evidence supporting a correlation with autosomal dominant MYPOP (PMIDs: 23489661, 9708547).
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). Additional MYH7-related conditions have also been reported (OMIM: 160760).
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).
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 currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23934111).
The NEFL gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) (MedGen UID: 375127) and type 1F (CMT1F) (MedGen UID: 334337). There is some evidence for recessive inheritance as well (PMID: 20039262).
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).
NGLY1 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 focal epilepsy (PMID: 26505888, 26285051).
The NRXN1 gene is associated with autosomal recessive idiopathic generalized epilepsy (PMID: 23294455, 25950944).
The NT5C2 gene is associated with autosomal recessive 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 OPTN gene is associated with autosomal recessive amyotrophic lateral sclerosis 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 c.607C>T, p.Arg203Trp variant in the PACS1 gene is associated with autosomal dominant intellectual disability 17 (ID17) (MedGen UID: 767257). Other variants in the PACS1 gene are not analyzed by this assay.
The PANK2 gene is associated with autosomal recessive pantothenate kinase-associated neurodegeneration (PKAN) (MedGen UID: 6708).
The PARK2 gene is associated with autosomal recessive Parkinson disease 2 (PARK2) (MedGen UID: 401500).
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).
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 PGA1 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 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive intellectual disability 53 (ID53) (PMID: 26996948).
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), Brugada syndrome (PMID: 24352520) and dilated cardiomyopathy (DCM) (PMID: 20716751).
The PLA2G6 gene is associated with autosomal recessive neuroaxonal dystrophy (MedGen UID: 82852), dystonia-parkinsonism (MedGen UID: 414488) and autosomal recessive neurodegeneration with brain iron accumulation (NBIA) (MedGen UID: 448017).
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).
Pathogenic variants in the PMP22 gene are associated with autosomal dominant Charcot-Marie-Tooth disease type 1A (CMT1A) (MedGen UID: 75727) and 1E (CMT1E) (MedGen UID: 348419) as well as autosomal dominant hereditary neuropathy with liability to pressure palsies (HNPP) (MedGen UID: 98291).
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 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 24610330).
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 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation 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 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 X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) (MedGen UID: 374254).
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 nevoid basal cell carcinoma syndrome (NBCCS), 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, PTEN-related Proteus syndrome, and Proteus-like syndrome (MedGen UID: 368366).
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 is associated 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 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive and autosomal dominant hereditary spastic paraplegia 72 (SPG72) (PMID: 24388663).
The RELN gene is associated with autosomal recessive lissencephaly (MedGen UID: 163213).
The ROGDI gene is associated with autosomal recessive Kohlschutter’s syndrome (MedGen UID: 98036).
The RTN2 gene is associated with autosomal dominant hereditary spastic paraplegia 12 (MedGen UID: 347618).
The RYR1 gene is associated with autosomal recessive and dominant central core disease (CCD) (MedGen UID: 199773) and autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177) and 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 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 SCN1A-related seizure disorders ranging from simple febrile seizures (MedGen UID: 338959) and generalized epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 388117) to Dravet syndrome (MedGen UID: 148243) and intractable childhood epilepsy with generalized tonic-clonic seizures (