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Clinical Area: Pediatric and Rare Disease
Clinical Area: Hereditary Cancer
Clinical Area: Hypophosphatemia
Clinical Area: EXOME
Clinical Area: Pediatric developmental disorders
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The A2ML1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (OMIM# 610627; PMID: 24939586).
The ABAT gene is associated with autosomal recessive GABA-transaminase (GABA-T) deficiency (PMID: 20052547).
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 ACVR2B gene is associated with autosomal dominant heterotaxy, type 4 (MedGen UID: 462407).
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 AFF4 gene is associated with autosomal dominant CHOPS syndrome (cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia) (MedGen UID: 833892).
The AGK gene is associated with autosomal recessive Sengers syndrome (MedGen UID:395228). Additionally, the AGK gene has limited evidence supporting a correlation with autosomal recessive non syndromic congenital cataracts (PMID: 22415731)
The AHI1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 798322).
The AIPL1 gene is associated with autosomal recessive Leber congenital amaurosis 4 (LCA4) (MedGen UID: 346808). Additionally, the AIPL1 gene has preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 20702822, 21474771) and cone-rod dystrophy (PMID: 26103963, 10873396).
The AKT1 gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288). Additionally, the AKT1 gene is associated with Proteus syndrome where the pathogenic variant is constitutionally mosaic and not inherited (MedGen UID: 39008).
The AKT2 gene is associated with autosomal dominant hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) (MedGen UID: 343429). Additionally, the AKT2 gene has preliminary evidence supporting a correlation with autosomal dominant diabetes mellitus, type II (MedGen UID: 41523).
The AKT3 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) (MedGen UID: 799862).
The ALDH1A3 gene is associated with autosomal recessive isolated microphthalmia-8 (MCOP8) (MedGen UID: 767438).
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 ALK gene is associated with autosomal dominant neuroblastoma susceptibility (MedGen UID: 414083).
The ALMS1 gene is associated with autosomal recessive Alstrom syndrome (MedGen UID: 78675).
The AMT gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).
The ANKRD11 gene is associated with autosomal dominant KBG syndrome (MedGen UID: 66317) and Cornelia de Lange Syndrome (CdLS) (PMID: 25652421, 25125236).
The ANKS6 gene is associated with autosomal recessive nephronophthisis 16 (NPHP16) (MedGen UID: 815650).
The ANOS1 gene is associated with X-linked Kallman syndrome (MedGen UID: 295872).
The APC gene is associated with autosomal dominant familial adenomatous polyposis (FAP) (MedGen UID: 398651), attenuated FAP (AFAP) (MedGen UID: 436213), and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) (PMID: 27087319).
The AR gene is associated with X-linked androgen insensitivity syndrome (AIS) (MedGen UID: 21102) and Kennedy spinal and bulbar muscular atrophy (MedGen UID: 333282). Kennedy SBMA disease-related polyglutamine repeat expansions are not currently analyzed by this assay.
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 ARL13B gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 436772).
The ARL6 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and retinitis pigmentosa (MedGen UID: 20551).
The ARMC4 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815878).
The ARSE gene is associated with X-linked recessive chondrodysplasia punctata (MedGen UID: 337102)
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 ATM gene is associated with an increased risk for autosomal dominant breast, pancreatic and prostate cancers (PMID: 15928302, 15942625, 16998505, 22585167, 26483394, 26662178, 27433846, 27324988, 27989354) and autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439).
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 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 ATRX gene is associated with Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome (MedGen UID: 337145).
The AXIN2 gene is associated with autosomal dominant oligodontia-colorectal cancer syndrome (MedGen UID: 324868).
The B9D1 gene is associated with autosomal recessive ciliopathies, including Meckel syndrome (MedGen UID: 481785) and Joubert syndrome (MedGen UID: 934673).
The B9D2 gene is associated with autosomal recessive Meckel syndrome (MedGen UID: 481666).
The BAP1 gene is associated with autosomal dominant BAP1 tumor predisposition syndrome (MedGen UID: 482122).
The BBS1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422452).
The BBS10 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347909).
The BBS12 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347910).
The BBS2 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422453).
The BBS4 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019). Additionally, the BBS4 gene has preliminary evidence supporting a correlation with autosomal recessive Leber congenital amaurosis (LCA) (PMID: 22219648).
The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 431047).
The BBS7 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347180).
The BBS9 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347182).
The BCOR gene is associated with X-linked dominant oculofaciocardiodental (OFCD) syndrome (MedGen UID: 337547). Additionally, the BCOR gene has preliminary evidence supporting a correlation with X-linked recessive Lenz microphthalmia syndrome (PubMed: 26694549).
The BFSP1 gene is associated with autosomal dominant congenital cataracts (PMID: 24379646) and autosomal recessive congenital cataracts (MedGen UID: 370714).
The BFSP2 gene is associated with autosmal recessive congenital cataracts (PMID: 21836522, 22935719).
The BLM gene is associated with autosomal recessive Bloom syndrome (MedGen UID: 2685). Additionally, the BLM gene has preliminary evidence supporting a correlation with autosomal dominant colorectal cancer in individuals who carry a single pathogenic variant (PMID: 12242432, 26358404, 12702560, 18210922).
The BMP4 gene is associated with autosomal dominant microphthalmia 6 (MCOPS6) (MedGen UID: 468558). Additionally, the BMP4 gene has preliminary evidence supporting a correlation with autosomal dominant orofacial clefting (PMID: 19249007, 21340693).
The BMPR1A gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518).
The BRAF gene is associated with the autosomal dominant Noonan syndrome (MedGen UID: 462320) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 266149).
The BRAT1 gene is associated with autosomal recessive neonatal-lethal rigidity and multifocal seizure syndrome (RFMSL) (MedGen UID: 482659).
The C12orf57 gene is associated with autosomal recessive Temtamy syndrome (MedGen UID: 347474).
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 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 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 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 CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID 462153).
The CC2D2A gene is associated with autosomal recessive ciliopathies including Joubert syndrome (MedGen UID: 382940), Joubert syndrome with congenital hepatic fibrosis (COACH syndrome; MedGen UID: 387879), and Meckel-Gruber syndrome (MedGen UID: 382942).
The CCDC103 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 762261).
The CCDC114 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 761920).
The CCDC151 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 807540).
The CCDC39 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 462486).
The CCDC40 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 462487).
The CCDC65 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816031).
The CCM2 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 400438).
The CCNO gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID 786447).
The CDC73 gene is associated with autosomal dominant hyperparathyroidism-jaw tumor syndrome (HPT-JT), parathyroid carcinoma, and familial isolated hyperparathyroidism (FIH) (MedGen UID: 310065, 146361, 333554), collectively referred to as CDC73-related conditions.
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 CDKN1C gene is associated with autosomal dominant Beckwith-Wiedemann syndrome (MedGen UID: 2562). Additionally, the CDKN1C gene has preliminary evidence supporting a correlation with autosomal dominant intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGe syndrome) (MedGen UID: 337364).
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 CEBPA gene is associated with autosomal dominant familial acute myeloid leukemia (MedGen UID: 9730).
The CEP104 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 852392).
The CEP120 gene is associated with autosomal recessive Joubert syndrome (PMID: 27208211, MedGen UID: 1618082) and short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) (PMID: 25361962; MedGen UID: 468503).
The CEP164 gene is associated with autosomal recessive nephronophthisis 15 (NPHP15) (MedGen UID: 762112)
The CEP290 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 346672), Joubert syndrome (MedGen UID: 347545) and Bardet-Biedl syndrome (MedGen UID: 393033).
The CEP41 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482527).
The CEP83 gene is associated with autosomal recessive nephronophthisis 18 (NPHP18) (MedGen UID: 786419).
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 CFAP298 gene, formerly known as C21orf59, is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816014).
The CFAP52 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive CFAP52-related heterotaxy (PMID: 25469542).
The CFAP53 gene is associated with autosomal recessive heterotaxy (MedGen UID: 766590).
The CFTR gene is associated with autosomal recessive cystic fibrosis (MedGen UID: 41393) and congenital bilateral absence of the vas deferens (CBAVD) (MedGen UID: 98021). Additionally, the CFTR gene is associated with an increased risk for chronic pancreatitis (PMID: 17003641, 11729110).
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 CHM gene is associated with X-linked choroideremia (MedGen UID: 944).
The CHMP4B gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant congenital cataracts (PMID:10682967, 10909854).
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 CHRNB2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 344263).
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 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 COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662), and Caffey disease (PMID: 24389367).
The COL1A2 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246) and Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662). The COL1A2 gene is also associated with autosomal recessive Ehlers-Danlos syndrome, cardiac valvular form (MedGen UID: 347359).
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 CPLANE1 gene, formerly known as C5orf42, is associated with autosomal recessive Joubert syndrome (MedGen UID: 766178) and orofaciodigital syndrome, type VI (OFD6) (MedGen UID: 411200).
The CRB1 gene is associated with autosomal recessive Leber congenital amaurosis 8 (MedGen UID: 462552) and retinitis pigmentosa 12 (MedGen UID: 374019).
The CREBBP gene is associated with autosomal dominant Rubinstein-Taybi syndrome 1 (RSTS1) (MedGen UID: 48517) and is commonly deleted in the recurrent 16p13.3 microdeletion syndrome (OMIM: 610543), a severe form of RSTS resulting from a contiguous gene deletion involving CREBBP as well as other neighboring genes.
The CRELD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrioventricular septal defects (PMID: 15857420, 21080147).
The CRTAP gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 343981).
The CRX gene is associated with autosomal dominant Leber congenital amaurosis 7 (MedGen UID: 462542) and cone-rod dystrophy 2 (MedGen UID: 441877).
The CRYAA gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID:347693)
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 CRYBA1 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 318817).
The CRYBA4 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 351240). Additionally, the CRYBA4 gene has preliminary evidence supporting a correlation with autosomal recessive cataracts (PMID: 28418495) and autosomal dominant microphthalmia (PMID: 16960806).
The CRYBB1 gene is associated with autosomal dominant congenital cataracts (PMID: 18432316) and autosomal recessive congenital cataracts (MedGen UID: 370592).
The CRYBB2 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 321901).
The CRYBB3 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 341862). Additionally, the CRYBB3 gene has preliminary evidence supporting a correlation with autosomal dominant congenital cataracts (PMID: 23508780).
The CRYGB gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant congenital cataracts (MedGen UID: 815130).
The CRYGC gene is associated with autosomal dominant congenital cataracts (MedGen UID: 343810).
The CRYGD gene is associated with autosomal dominant congenital cataracts (MedGen UID: 348463). Additionally, the CRYGD gene has limited evidence supporting a correlation with congenital cataracts in association with microcornea (CCMC) (PMID: 17724170).
The CRYGS gene is associated with autosomal dominant congenital cataracts (MedGen UID: 101117).
The CSPP1 gene is associated with with autosomal recessive ciliopathies, including Meckel syndrome (MedGen UID: 481785) and Joubert syndrome (MedGen UID: 934673). A minority of individuals affected by CSPP1-related Joubert syndrome have also been reported with Jeune asphyxiating thoracic dystrophy (PMID: 24360808).
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 CTDP1 gene is associated with autosomal recessive congenital cataracts with facial dysmorphism and neuropathy (CCFDN) (Medgen UID: 346973).
The CTRC gene is associated with an increased risk for chronic pancreatitis (MedGen UID: 116056).
The CTSD gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 10 (CLN10) (MedGen UID: 350481).
The CUL4B gene is associated with X-linked recessive Cabezas type intellectual disability syndrome (MedGen UID: 337334).
The CYP1B1 gene is associated with autosomal recessive primary congenital glaucoma 3A (GLC3A), and juvenile- and adult-onset primary open-angle glaucoma (POAG) (MedGen UID: 42532). CYP1B1 is also associated with an increased risk for glaucoma that may be seen in combination with Peters anomaly (MedGen UID: 91031).
The DCAF17 gene is associated with autosomal recessive Woodhouse-Sakati syndrome (WSS) (MedGen UID: 83337).
The DCDC2 gene is associated with autosomal recessive nephronophthisis 19 (NPHP19) (MedGen UID: 863979). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 25601850).
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 DHCR7 gene is associated with autosomal recessive Smith-Lemli-Opitz syndrome (SLOS) (Medgen UID: 61231).
The DHH gene is associated with autosomal recessive gonadal dysgenesis (MedGen UID: 383876).
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 DICER1 gene is associated with autosomal dominant DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome (MedGen UID: 449020).
The DIS3L2 gene is associated with autosomal recessive Perlman syndrome (MedGen UID: 162909). Additionally, the DIS3L2 gene has preliminary evidence supporting a correlation with autosomal dominant non-syndromic Wilms tumor (PMID: 25670083).
The DNAAF1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 413399).
The DNAAF2 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 382707).
The DNAAF3 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 338258).
The DNAAF4 gene, formerly known as DYX1C1, is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 815971).
The DNAAF5 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 762331).
The DNAH1 gene is associated with autosomal recessive multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 27573432, 27798045). Additionally, the DNAH1 gene has preliminary evidence supporting a correlation with autosomal recessive primary ciliary dyskinesia (PMID: 25927852).
The DNAH11 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 394834).
The DNAH5 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 325210).
The DNAH8 gene is associated with autosomal recessive primary ciliary dyskinesia (OMIM# 603337; PMID: 24307375).
The DNAI1 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD), or Kartagener syndrome (MedGen UID: 9615).
The DNAI2 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 390990).
The DNAJC5 gene is associated with autosomal dominant neuronal ceroid lipofuscinosis type 4B (CLN4B) (MedGen UID: 320287).
The DNAL1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 462810).
The DNM1 gene is associated with autosomal dominant early infantile epileptic encephalopathy 31 (EIEE31) (MedGen UID: 833832).
The DNMT3A gene is associated with autosomal dominant Tatton-Brown-Rahman syndrome (TBRS) (MedGen UID: 786449).
The DOCK7 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) 23 (MedGen UID: 862929).
The DRC1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815417).
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 DYNC2H1 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (MedGen UID: 462535).
The DYRK1A gene is associated with autosomal dominant intellectual disability 7 (IDD7) (MedGen UID: 481469).
The EDA gene is associated with X-linked hypohidrotic ectodermal dysplasia (HED) (MedGen UID: 57890).
The EDAR gene is associated with autosomal recessive and dominant hypohidrotic ectodermal dysplasia (HED) (MedGen UID: 96067, 314095).
The EDARADD gene is associated with autosomal dominant and autosomal recessive hypohidrotic ectodermal dysplasia (MedGen UID: 314095, 96067).
The EED gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal dominant Weaver-like overgrowth syndrome (PMID: 25787343).
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 EHMT1 gene is associated with autosomal dominant Kleefstra syndrome (MedGen UID: 208639).
The ELN gene is associated with autosomal dominant supravalvular aortic stenosis (SVAS) (MedGen UID: 2001), autosomal dominant cutis laxa (MedGen UID: 120630), and is one of the genes commonly deleted in the microdeletion associated with Williams syndrome (WS) (MedGen UID: 59799).
The EP300 gene is associated with autosomal dominant Rubinstein-Taybi syndrome (MedGen UID: 462291). Additionally, the EP300 gene has preliminary evidence supporting a correlation with autosomal dominant Cornelia de Lange syndrome (PMID: 24352918).
Deletions including exon 9 of the EPCAM gene are known to cause autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer, or HNPCC) (MedGen UID: 412966). EPCAM is also associated with autosomal recessive congenital tufting enteropathy (CTE) (MedGen UID: 413031).
The EPHA2 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 396229).
The EPM2A gene is associated with autosomal recessive progressive myoclonus epilepsy, Lafora type (MedGen UID: 155631).
The ERF gene is associated with autosomal dominant craniosynostosis (MedGen UID: 468569).
The EVC gene is associated with autosomal recessive Ellis-van Creveld syndrome (EvC) (MedGen UID: 8584). Additionally, the EVC gene has preliminary evidence supporting a correlation with autosomal dominant Weyers acrodental dysostosis (WAD) (PMID: 10700184).
The EVC2 gene is associated with autosomal recessive Ellis-van Creveld syndrome (EvC) (MedGen UID: 8584), and autosomal dominant Weyers acrodental dysostosis (WAD) (MedGen UID: 141594).
The EXT1 gene is associated with autosomal dominant hereditary multiple osteochondromas (HMO) (MedGen UID: 4612).
The EXT2 gene is associated with autosomal dominant hereditary multiple osteochondromatosis (HMO) (MedGen UID: 377018), previously called hereditary multiple exostoses.
The EYA1 gene is associated with autosomal dominant forms of branchiootorenal spectrum disorders (Medgen UID: 351307, 82693) and Oto-facio-cervical (OFC) syndrome (Medgen UID: 322257).
The EZH2 gene is associated with autosomal dominant Weaver syndrome (MedGen UID: 120511).
The FA2H gene is associated with autosomal recessive hereditary spastic paraplegia 35 (SPG35) (MedGen UID: 777150).
The FAM126A gene is associated with autosomal recessive hypomyelination and congenital cataracts (HCC) (MedGen UID: 382379).
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 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 FGFR2 gene is associated with autosomal dominant forms of craniosynostosis including Apert syndrome (MedGen UID: 7858), Crouzon syndrome (MedGen UID: 914990), Jackson-Weiss syndrome (MedGen UID: 208653), Pfeiffer syndrome (MedGen UID: 350148), and Beare-Stevenson syndrome (MedGen UID: 377668); bent bone dysplasia (MedGen UID: 482877); and Lacrimo-Auriculo-Dento-Digital Syndrome (LADD) (MedGen UID: 78545). Additionally, the FGFR2 gene has preliminary evidence supporting a correlation with autosomal recessive ectrodactyly and acinar dysplasia (PMID: 27323706).
The FGFR3 gene is associated with autosomal dominant skeletal dysplasias (MedGen UID: 1289, 98376, 358383) and craniosynostosis (MedGen UID: 355217, 394201). Other FGFR3-related conditions have been reported (OMIM: 134934).
The FH gene is associated with autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC) (MedGen UID: 353771) and autosomal recessive fumarate hydratase deficiency (FHD) (MedGen UID: 87458).
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 FOLR1 gene is associated with autosomal recessive cerebral folate deficiency (MedGen UID: 442763).
The FOXC1 gene is associated with autosomal dominant anterior segment dysgenesis (ASD) (MedGen UID: 355748) and Axenfeld-Rieger syndrome (ARS) (Medgen UID: 394534).
The FOXE3 gene is associated with autosomal recessive congenital primary aphakia [CPA] (MedGen UID: 339935) and autosomal dominant anterior segment mesenchymal dysgenesis [ASMD] (MedGen UID: 350766) and thoracic aortic aneurysm and/or dissection (TAAD) (MedGen UID: 468423).
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 FYCO1 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 351249)
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 GALK1 gene is associated with autosomal recessive galactokinase galactosemia (MedGen UID: 120614).
The GAMT gene is associated with autosomal recessive guanidinoacetate methyltransferase (GAMT) deficiency (MedGen UID: 154356).
The GAS8 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 852235).
The GATA2 gene is associated with autosomal dominant GATA2 deficiency (MedGen UID: 481660), including Emberger syndrome (MedGen UID: 481294).
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 GATM gene is associated with autosomal recessive cerebral creatine deficiency syndrome due to arginine:glycine amidinotransferase (AGAT) deficiency (MedGen UID: 436367).
The GCNT2 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 811703).
The GCSH gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).
The GDF1 gene is associated with autosomal recessive heterotaxy (PMID: 20413652). Additionally, the GDF1 gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 17924340).
The GDF3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with a skeletal disorder with ocular involvement (PMID: 19864492, 24859618).
The GDF6 gene is associated with autosomal dominant Klippel-Feil syndrome 1 (KFS1) (MedGen UID: 396196), autosomal recessive Leber congenital amaurosis 17 (LCA17) (MedGen UID: 811616), autosomal isolated microphthalmia 4 (MCOP4) (MedGen UID: 414346), and autosomal digenic microphthalmia with coloboma 6 (MCOPCB6) (MedGen UID: 462318).
The GJA1 gene is associated with autosomal dominant hypoplastic left heart syndrome (HLHS) (MedGen UID: 57746), atrioventricular septal defect (AVSD) (MedGen UID: 342900), oculodentodigital dysplasia (ODDD) (MedGen UID: 167236), and syndactyly type 3 (MedGen UID: 396117). The GJA1 gene is also associated with autosomal recessive craniometaphyseal dysplasia (MedGen UID: 387837).
The GJA3 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 356152)
The GJA8 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 349374) and autosomal recessive congenital cataracts (PMID: 21720542).
The GJB6 gene is associated with autosomal dominant non-syndromic deafness (DFNA3B) (MedGen UID: 436382), Clouston type ectodermal dysplasia 2 (ECTD2) (MedGen UID: 56416) and autosomal recessive non-syndromic deafness (DFNB1B) (MedGen UID: 436381). Additionally, the GJB6 gene has preliminary evidence supporting an association with digenic inheritance of deafness with the GJB2 gene (MedGen UID: 388720).
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 GLI3 gene is associated with autosomal dominant Greig cephalopolysyndactyly syndrome (MedGen UID: 120531), Pallister-Hall syndrome (MedGen UID: 120514) and polydactyly (MedGen UID: 67394, 357420).
The GLIS2 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 369409).
The GLRA1 gene is associated with autosomal dominant and autosomal recessive hyperekplexia 1 (HKPX1) (MedGen UID: 332019).
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 GOSR2 gene is associated with autosomal recessive progressive myoclonic epilepsy (MedGen UID: 481257).
The GPC3 gene is associated with X-linked recessive Simpson-Golabi-Behmel syndrome (MedGen UID: 162917).
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 GRHL3 gene is associated with autosomal dominant van der Woude syndrome (MedGen UID: 338272).
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 GUCY2D gene is associated with autosomal recessive Leber congenital amaurosis 1 (MedGen UID: 419026) and autosomal dominant cone rod dystrophy 6 (MedGen UID: 400963).
The HAND1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypoplastic left heart syndrome, atrioventricular septal defects and ventricular septal defects (PMID: 19586923, 18276607, 22032825).
The HCN1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 786443).
The HDAC8 gene is associated with X-linked Cornelia de Lange syndrome (MedGen UID: 78752) and syndromic intellectual disability (ID) (PMID: 22889856, 29519750).
The HESX1 gene is associated with autosomal recessive septo-optic dysplasia (SOD) (MedGen UID: 90926). Additionally, the HESX1 gene has preliminary evidence supporting a correlation with microphthalmia/anophthalmia (PMID: 17148560) and autosomal dominant idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS) (PMID: 23465708).
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 HPRT1 gene is associated with X-linked recessive HPRT deficiency and includes the spectrum of Lesch Nyhan syndrome (MedGen UID: 9721) to isolated hyperuricemia with gout (MedGen UID: 82770).
The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454). Other HRAS-related conditions have been described (OMIM: 163200, 218040).
The HSF4 gene is associated with autosomal dominant and autosomal recessive cataracts (MedGen UID: 78608). Evidence to date suggests loss of function variants in HSF4 may be associated with autosomal recessive cataracts, while a dominant negative mechanism may be associated with autosomal dominant cataracts. The available evidence regarding these associations however, is limited.
The IER3IP1 gene is associated with autosomal recessive microcephaly, epilepsy, and diabetes syndrome (MEDS) (MedGen UID: 481870).
The IFT122 gene is associated with autosomal recessive cranioectodermal dysplasia 1 (CED1) (MedGen UID: 96586).
The IFT140 gene is associated with autosomal recessive Mainzer-Saldino syndrome (MedGen UID: 341455), and retinitis pigmentosa (MedGen UID: 1619674).
The IFT172 gene is associated with autosomal recessive short-rib thoracic dysplasia 10 with or without polydactyly (MedGen UID: 816505) and Bardet-Biedl syndrome (PMID: 26763875). Additionally, the IFT172 gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic retinitis pigmentosa (PMID: 25168386).
The IFT80 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (MedGen UID: 468503).
The IMPDH1 gene is associated with autosomal dominant retinitis pigmentosa 10 (MedGen UID: 357247). Additionally, the IMPDH1 gene has preliminary evidence supporting a correlation with autosomal dominant Leber congenital amaurosis 11 (PMID: 16384941, 23661368).
The INPP5E gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 468502).
The INVS gene is associated with autosomal recessive infantile nephronopthisis (MedGen UID: 355574).
The IQCB1 gene is associated with autosomal recessive nephronophthisis and Leber congenital amaurosis, which, when present together, are referred to as Senior-Loken syndrome (MedGen UID: 332226).
The IQSEC2 gene is associated with X-linked intellectual disability (MedGen UID: 444070).
The IRF6 gene is associated with autosomal dominant popliteal pterygium syndrome (MedGen UID: 78543) and autosomal dominant van der Woude syndrome (MedGen UID:61233). Additionally, the IRF6 gene has limited evidence supporting a correlation with non-syndromic orofacial cleft (MedGen UID: 332391).
The ITPA gene is associated with autosomal recessive inosine triphosphate pyrophosphohydrolase (ITPase) deficiency (MedGen UID: 333499).
The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434) and tetralogy of Fallot (MedGen UID: 21498).
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 KANSL1 gene is associated with autosomal dominant Koolen-de Vries syndrome (MedGen UID: 355853).
The KAT6B gene is associated with autosomal dominant genitopatellar syndrome (GPS) (MedGen UID: 381208) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) (MedGen UID: 350209).
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 KCNJ13 gene is associated with autosomal dominant snowflake vitreoretinal degeneration (MedGen UID: 395476) and autosomal recessive Leber congenital amaurosis 16 (MedGen UID: 481692).
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 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 KDM6A gene is associated with X-linked dominant Kabuki syndrome (MedGen UID: 162897).
The KIAA0586 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 900119) and short-rib thoracic dysplasia (SRTD) 14 (MedGen UID: 901479).
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 KIF7 gene is associated with autosomal recessive acrocallosal syndrome (MedGen UID: 162915), hydrolethalus syndrome (MedGen UID: 481529) and Joubert syndrome 12 (MedGen UID: 162915).
The KMT2D gene is associated with autosomal dominant Kabuki syndrome (MedGen UID: 162897).
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 KPTN gene is associated with autosomal recessive intellectual disability 41 (IDT41) (MedGen UID: 816555).
The KRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 349931) and cardiofaciocutaneous (CFC) syndrome (MedGen UID: 501102). Other KRAS-related conditions have been reported (OMIM).
The KRIT1 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 349362).
The LCA5 gene is associated with autosomal recessive Leber congenital amaurosis 5 (LCA5) (MedGen UID: 388031).
The LEFTY2 gene is associated with autosomal dominant left-right axis malformations (also called LEFTY2-related heterotaxy; MedGen UID: 355624).
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 LIM2 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive cataracts (PMID: 11917274).
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 LRAT gene is associated with autosomal recessive Leber congenital amaurosis 14 (MedGen UID: 442375), and early-onset retinitis pigmentosa (MedGen UID: 442376).
The LRRC6 gene is associated with autosomal recessive primary ciliary dyskinesia 19 (PCD19) (MedGen UID: 762332).
The LTBP3 gene is associated with autosomal dominant geleophysic dysplasia (MedGen UID: 1339138) and autosomal recessive dental anomalies and short stature (MedGen UID: 318659).
The MAB21L2 gene is associated with autosomal dominant syndromic microphthalmia/coloboma and skeletal dysplasia syndrome (MedGen UID: 862977).
The MAF gene is associated with autosomal dominant Ayme-Gripp syndrome (MedGen UID: 371416) and congenital cataracts (PMID: 17982426, 11772997).
The MAP2K1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).
The MAP2K2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).
The MAP3K1 gene is associated with autosomal dominant 46,XY disorder of sex development (DSD) (MedGen UID: 462414).
The MASP1 gene is associated with autosomal recessive 3MC syndrome 1 (3MC1) (MedGen UID: 167100).
The MAX gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 313270).
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 MCIDAS gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 3467).
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 MED13L gene is associated with autosomal dominant intellectual disabilities and facial dysmorphism with or without cardiac defects (MedGen UID: 900924) and autosomal dominant transposition of great arteries, dextro-looped 1 (MedGen UID: 332422).
The MEF2C gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 462050).
The MEGF8 gene is associated with autosomal recessive Carpenter syndrome (MedGen UID: 767161).
The MEIS2 gene is associated with an autosomal dominant condition causing facial clefting, cardiac septal defects, and varying degrees of intellectual disability (PMID: 24678003, 20425846, 25712757).
The MEN1 gene is associated with autosomal dominant multiple endocrine neoplasia type 1 (MEN1) syndrome (MedGen UID: 9957) and familial isolated hyperparathyroidism (FIHP) (OMIM: 145000).
The MFRP gene is associated with autosomal recessive isolated microphthalmia 5 (MCOP5) (MedGen UID: 410021).
The MFSD8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 7 (CLN7) (MedGen UID: 325457).
The MIP gene is associated with autosomal dominant congenital cataracts (MedGen UID: 815331).
The MKKS gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and autosomal recessive McKusick-Kaufman syndrome (MedGen UID: 184924).
The MKS1 gene is associated with autosomal recessive Meckel-Gruber syndrome (MedGen UID: 811346), and Joubert syndrome (PMID: 24886560).
The MLH1 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 232603) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).
The MRE11 gene, formerly known as MRE11A, is associated with autosomal recessive ataxia-telangiectasia-like disorder (ATLD) (MedGen UID: 348929). There is preliminary evidence suggesting a phenotypic overlap between ATLD and autosomal recessive Joubert syndrome (PMID: 22863007). Additionally, the MRE11 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to breast cancer (PMID: 14684699, 24894818).
The MSH2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 423615) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).
The MSH6 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 318886) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).
The MSX1 gene is associated with autosomal dominant tooth agenesis (MedGen UID: 43794) and orofacial clefting (MedGen UID: 373280). Additionally, the MSX1 gene has preliminary evidence supporting a correlation with autosomal dominant ectodermal dysplasia affecting the teeth and nails, also known as Witkop syndrome (PMID: 11369996).
The MSX2 gene is associated with autosomal dominant parietal foramina (MedGen UID: 358250), parietal foramina with cleidocranial dysplasia (MedGen UID: 401479), and craniosynostosis (MedGen UID: 468569).
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 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 NBN gene is associated with an increased risk for autosomal dominant breast cancer in individuals who carry a single pathogenic NBN variant (PMID: 21514219, 16770759). Additionally, the NBN gene is associated with autosomal recessive Nijmegen breakage syndrome (NBS) (MedGen UID: 140771).
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 NEK1 gene is associated with autosomal recessive short rib-polydactyly syndrome type 2 (SRP2), also known as Majewski syndrome (MedGen UID: 44252). Additionally, the NEK1 gene has preliminary evidence supporting a correlation with amyotrophic lateral sclerosis (PMID: 26945885, 27455347).
The NEK8 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 462538).
The NEXMIF gene, formerly known as KIAA2022, is associated with X-linked intellectual disability 98 (IDX98) (MedGen UID: 813060).
The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013), neurofibromatosis-Noonan syndrome (NFNS) (MedGen UID: 419089), and Watson syndrome (MedGen UID: 107817).
The NF2 gene is associated with autosomal dominant neurofibromatosis type 2 (NF2) (MedGen UID: 18014).
The NFIX gene is associated with autosomal dominant Sotos syndrome 2 (MedGen UID: 766574) and Marshall-Smith syndrome (MedGen UID: 75551).
The NFKBIA gene is associated with autosomal dominant anhidrotic ectodermal dysplasia with T-cell immunodeficiency (EDA-ID) (MedGen UID: 394295).
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 NHS gene is associated with X-linked Nance-Horan syndrome (MedGen UID: 208665).
The NIPBL gene is associated with autosomal dominant Cornelia de Lange syndrome (MedGen UID: 429758).
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 NKX2-6 gene is associated with autosomal recessive conotruncal heart malformations (MedGen UID: 341803).
The NME8 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID:370930).
The NMNAT1 gene is associated with autosomal recessive Leber congenital amaurosis 9 (LCA9) (MedGen UID: 325277).
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 NOTCH1 gene is associated with autosomal dominant aortic valve disorder (MedGen UID: 226776) and Adams-Oliver syndrome (MedGen UID: 807523).
The NOTCH2 gene is associated with autosomal dominant Hajdu-Cheney syndrome (MedGen UID: 182961) and Alagille syndrome 2 (ALGS2) (MedGen UID: 341844).
The NPHP1 gene is associated with autosomal recessive ciliopathies including nephronophthisis (MedGen UID: 343406), Senior-Loken syndrome (MedGen UID: 96045) and Joubert syndrome 4 (MedGen UID: 335526).
The NPHP3 gene is associated with autosomal recessive ciliopathies including nephronopthisis (MedGen UID: 346809), Meckel-Gruber syndrome (MedGen UID: 382217), and renal-hepatic-pancreatic dysplasia (MedGen UID: 382215).
The NPHP4 gene is associated with autosomal recessive ciliopathies including nephronophthesis (MedGen UID: 339667) and Senior-Loken syndrome, type 4 (MedGen UID: 337697).
The NPR2 gene is associated with autosomal recessive acromesomelic dysplasia, Maroteaux type (AMDM) (MedGen UID: 355199) and autosomal dominant epiphyseal chondrodysplasia, Miura type (ECDM) (MedGen UID: 799380). Additionally, the NPR2 gene has preliminary evidence supporting a correlation with autosomal dominant short stature (PMID: 16384845, 24001744).
The NPRL3 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 934675).
The NR0B1 gene is associated with X-linked congenital adrenal hypoplasia (MedGen UID: 87442) and disorders of sex development (MedGen UID: 341190).
The NR2F2 gene is associated with autosomal dominant congenital heart defects (MedGen UID: 777001) and heterotaxy (MedGen UID: 336609).
The NR5A1 gene is associated with autosomal dominant disorders of sex development (MedGen UID: 414114), spermatogenic failure (MedGen UID: 140793), and premature ovarian failure (MedGen UID: 38820).
The NRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 413028).
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 NSD1 gene is associated with autosomal dominant Sotos syndrome (MedGen UID: 833601).
The NSDHL gene is associated with X-linked dominant CHILD syndrome (MedGen UID: 82697) and X-linked recessive CK syndrome (MedGen UID: 463131).
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 OCRL gene is associated with X-linked recessive Lowe syndrome (MedGen UID: 18145).
The OFD1 gene is associated with X-linked dominant Oral-facial-digital syndrome, type 1 (MedGen UID: 307142) and X-linked recessive OFD1-related Joubert syndrome (MedGen UID: 300804). Additionally, OFD1 has been reported in association with primary ciliary dyskinesia (PMID: 16783569).
The OTX2 gene is associated with autosomal dominant microphthalmia, anophthalmia, coloboma (MAC) spectrum (MedGen UID: 468558). Additionally, the OTX2 gene has preliminary evidence supporting a correlation with autosomal dominant pituitary hormone deficiency (MedGen UID: 462790; PMID: 18728160) and autosomal dominant Leber congenital amaurosis (LCA) (PMID: 23847139, 15846561).
The P3H1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 410075).
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 PAX2 gene is associated with autosomal dominant papillorenal syndrome (MedGen UID: 339002). Additionally, the PAX2 gene has preliminary evidence supporting a correlation with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 807486; PMID: 24676634).
The PAX6 gene is associated with autosomal dominant Peters anomaly (MedGen UID: 91031), aniridia (MedGen UID: 1941), keratitis (MedGen UID: 332039) and optic nerve malformations (OMIM: 120430). Additionally, the PAX6 gene has limited evidence supporting a correlation with autosomal dominant Gillespie syndrome (MedGen UID: 96563) and foveal hypoplasia (MedGen UID: 342639). PAX6 is also involved in the contiguous gene deletion syndrome WAGR (MedGen UID: 64512).
The PAX9 gene is associated with autosomal dominant tooth agenesis (MedGen UID: 43794).
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 PDE6D gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 816608).
The PDGFRB gene is associated with autosomal dominant idiopathic basal ganglia calcification 4 (IBGC4) (MedGen UID: 767235), infantile myofibromatosis 1 (IMF1) (MedGen UID: 140933) and Penttinen-Aula syndrome (PENTT) (MedGen UID: 400936). Additionally, the PDGFRB gene has preliminary evidence supporting a correlation with autosomal dominant Kosaki overgrowth syndrome (KOGS) (MedGen UID: 851787).
The PHF6 gene is associated with X-linked Borjeson-Forssman-Lehmann syndrome (BFLS) (MedGen UID: 78557).
The PHOX2B gene is associated with autosomal dominant congenital central hypoventilation syndrome (CCHS) (MedGen UID: 347052). Most cases of CCHS are due to a polyalanine repeat expansion, which is not analyzed by this test.
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 PIK3R2 gene is associated with autosomal dominant megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome 1 (MPPH1) (MedGen UID: 355095).
The PITX2 gene is associated with autosomal dominant Axenfeld-Rieger syndrome (ARS) (MedGen UID: 811487) and autosomal dominant iridogoniodysgenesis (MedGen UID: 330750). Additionally, the PITX2 gene has limited evidence supporting a correlation with Peters anomaly (PMID: 10051017) and ring dermoid of cornea (PMID: 15591271).
The PITX3 gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID: 351162; PMID: 16565358). Additionally, the PITX3 gene has preliminary evidence supporting a correlation with anterior segment mesenchymal dysgenesis (MedGen UID: 350766).
The PKD2 gene is associated with autosomal dominant polycystic kidney disease, type 2 (MedGen UID: 442699).
The PKHD1 gene is associated with autosomal recessive polycystic kidney disease (MedGen UID: 39076).
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 PMS2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 325005) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).
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 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 POR gene is associated with autosomal recessive disordered steroidogenesis due to cytochrome p450 oxidoreductase (POR) deficiency (MedGen UID: 388773).
The PPT1 gene is associated with autosomal recessive forms of neuronal ceroid lipofuscinosis 1 (CLN1) (MedGen UID: 340540).
The PQBP1 gene is associated with X-linked recessive Renpenning syndrome (MedGen UID: 208670).
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 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 PRKAR1A gene is associated with autosomal dominant Carney complex (CNC) (MedGen UID: 388559).
The PRPH2 gene is associated with autosomal dominant and autosomal recessive PRPH2-related conditions including retinitis pigmentosa 7 (RP) (OMIM: 608133), Leber congenital amaurosis 18 (LCA) (OMIM: 608133), retinitis punctata albescens (RPA) (OMIM: 136880), macular dystrophy (MD) (OMIM: 608161), and central areolar choroidal dystrophy 2 (CACD) (OMIM: 613105).
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 PRSS1 gene is associated with autosomal dominant hereditary pancreatitis (Medgen UID: 116056).
The PRSS56 gene is associated with autosomal recessive isolated microphthalmia-6 (MCOP6) (MedGen UID: 462107).
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 PTPN11 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527), Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 442308), and metachondromatosis (MedGen UID: 98377).
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 PXDN gene is associated with autosomal recessive corneal opacification and other ocular anomalies (COPOA) (MedGen UID: 344000).