Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
C12orf65Chomosome 12 open reading frame 65(M) | 12q24.31 | * Spastic paraplegia 55, autosomal recessive - SPG55 (15.58)
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C19orf12Chromosome 19 open reading frame 12(M) | 19q12 | * Spastic paraplegia 43, autosomal recessive - SPG43 (15.46) * Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.46)
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C9orf72Chromosome 9 open reading frame 72 | 9p21.2 | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS (12.113, 12.81) * Spinobulbar muscular atrophy (SBMA)
- (12.113, 12.81)
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CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit | 19p13.13 | * Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.48, 13.54) * Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.48, 13.54) * Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.48, 13.54) * Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.48, 13.54) * Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.48, 13.54)
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CACNA1CCalcium channel, voltage-dependent, L type, alpha 1C subunit | 12p13.33 | * brugada syndrome 3 - BRGDA3 (10.143, 10.179) * Timothy syndrome - LQT8 (10.143, 10.179)
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CACNA1Gcalcium voltage-gated channel subunit alpha1 G | 17q21.33 | * Spinocerebellar ataxia 42 - SCA42 (13.38, 13.39) * Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits - SCA42ND (13.38, 13.39)
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CACNA1HCalcium channel, voltage-dependent, T type, aplpha-1H subunit | 16p13.3 | * Congenital amyotrophy - (5.50)
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CACNA1SCalcium channel, voltage-dependent, L type, alpha 1S subunit | 1q32 | * Hypokalemic periodic paralysis - CACNL1A3 (1.24, 3.46, 3.54, 7.8, 8.5) * Congenital myopathy with ophthalmoplegia related to CACNA1S - (1.24, 3.46, 3.54, 3.54, 7.8, 8.5) * Malignant hyperthermia susceptibility 5 - MHS5 (1.24, 3.46, 3.54, 3.54, 7.8, 8.5) * Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (1.24, 3.46, 3.54, 3.54, 7.8, 8.5)
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CACNB2Calcium channel, voltage-dependent, beta 2 subunit | 10p12.33-p12.31 | * brugada syndrome 4 - BRGDA4 (10.180)
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CACNB4Calcium channel, voltage-dependent, beta 4 subunit | 2q22-q23 | * episodic ataxia type 5, included - EA5 (13.50)
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CADM3Cell adhesion molecule 3 | 1q23.2 | * Charcot-Marie-Tooth disease, axonal, type 2FF - CMD2FF (14.77)
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| 14q32.11 | * Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT4 (10.131, 10.149) * Long QT syndrome 14 - LQT14 (10.131, 10.149)
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| 2p21 | * Long QT syndrome 15 - LQT15 (10.150)
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| 19q13.32 | * Long QT syndrome 16 - LQT16 (10.133, 10.151) * Ventricular tachycardia, catecholaminergic polymorphic 6 - CPVT6 (10.133, 10.151)
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| 19p13.11 | * Hypertrophic cardiomyopathy related calreticulin 3 - CMH19 (10.20)
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CAP2Cyclase associated actin cytoskeltin regulatory protein 2 | 6p22.3 | * Dilated cardiomyopathy, 2I - CMD2I (10.90)
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| 11q13.1 | * Spastic paraplegia 76, autosomal recessive - SPG76 (12.10, 15.69) * Spinal Muscular Atrophy type IV related to CAPN1 - (12.10, 15.69)
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| 15q15.1-q21.1 | * LGMDD4 - (1.19, 1.25) * Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.19, 1.25)
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CASQ1Calsequestrin 1 (fast-twitch, skeletal muscle)(M) | 1q21 | * Vacuolar myopathy with CASQ1 aggregates - VMCQA (5.44)
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CASQ2Calsequestrin 2 (cardiac muscle) | 1p13.1 | * ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.129)
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| 3p25.3 | * Myopathy distal, Tateyama type - MPDT (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16) * cardiomyopathy, familial hypertrophic - CMH (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16) * Creatine phosphokinase, elevated serum - CPK (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16) * Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) - (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16) * Rippling muscle disease - RMD2 (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16) * Long QT syndrome 9 - LQT9 (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16) * Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16) * Hyperckemia, idiopathic - (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16)
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CAVIN1Caveolae-associated protein 1(M) | 17q21-q2 | * lipodystrophy, congenital generalized, type 4 - CGL4 (1.13)
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CCDC78Coiled-coil domain-containing protein 78 | 16p13.3 | * Centronuclear myopathy 4 - CNM4 (3.21)
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CCDC88CCoiled-coil domain containing 88C | 14q32.11 | * Spinocerebellar ataxia 40 - SCA40 (13.36)
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CCT5Chaperonin containing TCP1 subunit 5 | 5p15.2 | * Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (14.136)
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| 18q12.1 | * Arrhythmogenic right ventricular dysplasia, familial, 14 - ARVD14 (10.127)
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CFAP276Cilia- and flagella-associated protein 276 | 1p21.2-p13.3 | * Charcot-Marie Tooth disease, intermediate - (14.22)
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| 14q12 | * Nemaline myopathy - NEM7 (3.10)
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CHATCholine acetyltransferase isoform | 10q11.2 | * Myasthenia gravis, autosomal recessive - MGI (11.13) * Myasthenia gravis, familial infantile - FIMG (11.13) * Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA (11.13) * Myasthenia gravis, familial infantile, 2 - FIMG2 (11.13) * Myasthenic syndrome, congenital, 6, presynaptic - CMS6 (11.13)
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CHCHD10Coiled-coil-helix-coiled-coil-helix domain containing 10(M) | 22q11.2-q13.2 | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.44, 12.82, 16.63) * late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.44, 12.82, 16.63)
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CHD8Chromodomain Helicase DNA-Binding Protein 8 | 14q11.2 | * Congenital myasthenic syndrome - (11.42)
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| 22q13 | * Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.44)
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CHMP2BCharged multivesicular body protein 2B | 3p11.2 | * Amyotrophic lateral sclerosis 17 - ALS17 (12.68)
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CHP1Calcineurin-like EF-hand protein 1 | 15q15.1 | * Spastic ataxia 9, autosomal recessive - SPAX9 (15.95)
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CHRNA1Cholinergic receptor, nicotinic, alpha polypeptide 1 | 2q24-q32 | * Myasthenic syndrome, fast-channel congenital - FCCMS (11.1, 11.5, 11.43) * Myasthenic syndrome, slow-channel congenital - SCCMS (11.1, 11.5, 11.43) * Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency - (11.1, 11.5, 11.43) * Myasthenic syndrome, congenital, 1B, Fast-channel - CMS1B (11.1, 11.5, 11.43) * Myasthenic syndrome, congenital, 1A, Slow-channel - CMS1A (11.1, 11.5, 11.43)
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CHRNB1Cholinergic receptor, nicotinic, beta 1 muscle | 17p13.1 | * Myasthenic syndrome, congenital, Ie, included - CMS1E (11.2, 11.6, 11.9) * Myasthenic syndrome, slow-channel congenital - SCCMS (11.2, 11.6, 11.9) * Myasthenic syndrome, congenital, 2B, Fast-channel - CMS2B (11.2, 11.6, 11.9) * Myasthenic syndrome, congenital, 2A, Slow-channel - CMS2A (11.2, 11.6, 11.9)
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CHRNDCholinergic receptor, nicotinic, delta | 2q33-q34 | * Myasthenic syndrome, slow-channel congenital - SCCMS (11.3, 11.7, 11.10) * Myasthenic syndrome, fast-channel congenital - FCCMS (11.3, 11.7, 11.10) * Myasthenic syndrome, congenital, 3B, Fast-channel - CMS3B (11.3, 11.7, 11.10)
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CHRNECholinergic receptor, nicotinic, epsilon | 17p13-p12 | * Myasthenic syndrome, fast-channel congenital - FCCMS (11.4, 11.8, 11.11) * Myasthenic syndrome, slow-channel congenital - SCCMS (11.4, 11.8, 11.11) * Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - CMS4C (11.4, 11.8, 11.11)
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CHRNGCholinergic receptor, nicotinic, gamma polypeptide | 2q33-q34 | * Escobar syndrome (multiple pterygium syndrome) - EVMPS (11.35)
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CLCN1Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) | 7q35 | * Myotonia recessive - CLC1 (6.3, 6.4, 7.1, 7.2) * Myotonia congenita, autosomal dominant, Thomsen disease - THD (6.3, 6.4, 7.1, 7.2) * Myotonia congenita, autosomal recessive, Becker disease - MCR (6.3, 6.4, 7.1, 7.2)
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CLN3Ceroid-lipofuscinosis, neuronal 3 (=battenin) | 16p11.2 | * Autophagic vacuolar myopathy - CLN3 (5.20)
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CLTCL1Clathrin, heavy polypeptide-like 1 | 22q11.21 | * Absence of pain, Congenital - (14.123)
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CNBPCellular nucleic acid-binding protein | 3q21.3 | * Proximal myotonic myopathy - PROMM (6.2) * Myotonic dystrophy, type 2 - DM2 (6.2)
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| 12q11-q12 | * Congenital myopathy 12 - CMYP12 (3.40)
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CNTNAP1Contactin-Associated Protein 1 | 17q21.2 | * Lethal congenital contracture syndrome 7 - LCCS7 (12.93, 14.42) * Charcot-Marie Tooth disease related to CNTNAP1 - (12.93, 14.42)
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COA7Cytochrome C oxidase assembly factor 7 | 1p32.3 | * Spinocerebellar ataxia with axonal neuropathy type 3 - SCAN3 (13.96)
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COL12A1Collagen type XII alpha 1 chain | 6q13-q14 | * Ullrich congenital muscular dystrophy 2 - UCMD2 (2.9, 2.10, 2.11) * Bethlem myopathy 2 - BTHLM2 (2.9, 2.10, 2.11) * COL12A1-related congenital muscular dystrophy - (2.9, 2.10, 2.11)
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COL13A1Collagen type XIII alpha 1 chain | 10q22.1 | * Congenital myasthenic syndrome type 19 - CMS19 (11.27)
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COL25A1Collagen, type XXV, alpha-1 | 4q25 | * Fibrosis of extraocular muscles, congenital, 5 - CFEOM5 (16.8)
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COL6A1Alpha 1 type VI collagen | 21q22.3 | * Bethlem myopathy - (1.20, 1.38, 2.2, 2.6) * Ullrich congenital muscular dystrophy - UCMD1 (1.20, 1.38, 2.2, 2.6) * LGMDR22 - (1.20, 1.38, 2.2, 2.6) * LGMDD5 - (1.20, 1.38, 2.2, 2.6)
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COL6A2Alpha 2 type VI collagen | 21q22.3 | * myosclerosis, autosomal recessive - (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12) * LGMDR22 - (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12) * LGMDD5 - (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12) * Bethlem myopathy - (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12) * Ullrich scleroatonic muscular dystrophy - UCMD1 (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12)
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COL6A3Alpha 3 type VI collagen | 2q37 | * LGMDR22 - (1.22, 1.40, 2.4, 2.8) * LGMDD5 - (1.22, 1.40, 2.4, 2.8) * Bethlem myopathy - (1.22, 1.40, 2.4, 2.8) * Ullrich congenital muscular dystrophy - UCMD1 (1.22, 1.40, 2.4, 2.8)
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COLQAcetylcholinesterase collagen-like tail subunit | 3p25 | * Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.12) * Myasthenic syndrome, congenital, 5 - CMS5 (11.12)
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| 4q21.23 | * Coenzyme Q10 deficiency 1 - COQ10D1 (16.74)
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| 9q34.11 | * Coenzyme Q10 deficiency 7 - COQ10D7 (16.78)
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COQ5Coenzyme Q5 Methyltransferase(M) | 12q24.31 | * Coenzyme Q10 deficiency - COQ10D9 (13.110)
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| 14q24.3 | * Coenzyme Q10 deficiency 6 - COQ10D6 (16.77)
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| 16p12.3 | * Coenzyme Q10 deficiency 8 - COQ10D8 (12.21, 16.79) * Neuropathy, distal hereditary motor, autosomal recessive 9 - HMNR9 (12.21, 16.79)
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| 16q21 | * Coenzyme Q10 deficiency 5 - COQ10D5 (16.76)
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COX15COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M) | 10q24 | * Mitochondrial complex IV deficiency, nuclear type 6 - MC4DN6 (CEMCOX2) (10.39)
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COX16Cytochrome c Oxidase Assembly Factor 16 | 14q24.2 | * Mitochondrial complex IV deficiency - MC4DN22 (16.87)
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COX20Cytochrome c Oxidase Assembly Factor COX20 | 1q44 | * Mitochondrial complex IV deficiency, nuclear type 11 - MC4DN11 (12.111)
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COX6A1Cytochrome c oxidase subunit VIa polypeptide 1(M) | 12q24.31 | * CMT recessive intermediate D - CMTRID (14.26)
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COX6A2Cytochrome c-oxidase, subunit 6A2(M) | 16p11.2 | * Mitochondrial complex IV deficiency, nuclear type 18 - MC4DN18 (16.70)
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CPT1CCarnitine Palmitoyltransferase 1C(M) | 19q13.33 | * Spastic paraplegia 73, autosomal dominant - SPG73 (15.22)
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CPT2Carnitine palmitoyltransferase II(M) | 1p32 | * CPT deficiency, hepatic, type II - CPT2 (9.18) * Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.18) * Myopathy due to CPT II deficiency - CPT2 (9.18)
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CRPPAIsoprenoid synthase domain containing protein | 7p21.2-p21.1 | * LGMDR20 - LGMDR20 (1.51, 2.24) * Walker-Warburg syndrome (WWS) - MDDGA7 (1.51, 2.24)
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| 11q22.3-q23.1 | * Dilated cardiomyopathy related to alpha-crystallin - (5.2, 10.73, 14.85) * Myofibrillar myopathy, alpha-B crystallin related - (5.2, 10.73, 14.85) * Myopathy, myofibrillar, 2 - MFM2 (5.2, 10.73, 14.85) * Charcot-Marie-Tooth disease, axonal, related to CRYAB - CMT2 (5.2, 10.73, 14.85)
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CSRP3Cysteine and glycine-rich protein 3 (cardiac LIM protein) | 11p15.1 | * Cardiomyopathy, dilated, 1M - CMD1M (10.11, 10.51) * Cardiomyopathy, familial hypertrophic, 12 - CMH12 (10.11, 10.51)
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CTDP1CTD phosphatase subunit 1 | 18q23 | * congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.134)
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| 10q21.3 | * Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 (10.126)
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CWF19L1CWF19-like Protein 1 | 10q24.31 | * Spinocerebellar ataxia, autosomal recessive 17 - SCAR17 (13.77)
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CYP2U1Cytochrome P450, family 2, subfamily U, polypeptide 1 | 4q25 | * Spastic paraplegia 56, autosomal recessive - SPG56 (15.59)
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CYP7B1Cytochrome P450, family 7, subfamily B, polypeptide 1 | 8p12-q13 | * Spastic paraplegia 5A - SPG5A (15.27)
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