Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

C12orf65
Chomosome 12 open reading frame 65(M)



12q24.31
* Spastic paraplegia 55, autosomal recessive - SPG55 (15.58)

C19orf12
Chromosome 19 open reading frame 12(M)



19q12
* Spastic paraplegia 43, autosomal recessive - SPG43 (15.46)
* Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.46)

C9orf72
Chromosome 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)

CACNA1A
Calcium 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)

CACNA1C
Calcium 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)

CACNA1G
calcium 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)

CACNA1H
Calcium channel, voltage-dependent, T type, aplpha-1H subunit



16p13.3
* Congenital amyotrophy - (5.50)

CACNA1S
Calcium 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)

CACNB2
Calcium channel, voltage-dependent, beta 2 subunit



10p12.33-p12.31
* brugada syndrome 4 - BRGDA4 (10.180)

CACNB4
Calcium channel, voltage-dependent, beta 4 subunit



2q22-q23
* episodic ataxia type 5, included - EA5 (13.50)

CADM3
Cell adhesion molecule 3



1q23.2
* Charcot-Marie-Tooth disease, axonal, type 2FF - CMD2FF (14.77)

CALM1
Calmodulin 1



14q32.11
* Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT4 (10.131, 10.149)
* Long QT syndrome 14 - LQT14 (10.131, 10.149)

CALM2
Calmodulin 2



2p21
* Long QT syndrome 15 - LQT15 (10.150)

CALM3
Calmodulin 3



19q13.32
* Long QT syndrome 16 - LQT16 (10.133, 10.151)
* Ventricular tachycardia, catecholaminergic polymorphic 6 - CPVT6 (10.133, 10.151)

CALR3
Calreticulin 3



19p13.11
* Hypertrophic cardiomyopathy related calreticulin 3 - CMH19 (10.20)

CAP2
Cyclase associated actin cytoskeltin regulatory protein 2



6p22.3
* Dilated cardiomyopathy, 2I - CMD2I (10.90)

CAPN1
Calpain 1



11q13.1
* Spastic paraplegia 76, autosomal recessive - SPG76 (12.10, 15.69)
* Spinal Muscular Atrophy type IV related to CAPN1 - (12.10, 15.69)

CAPN3
Calpain 3



15q15.1-q21.1
* LGMDD4 - (1.19, 1.25)
* Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.19, 1.25)

CASQ1
Calsequestrin 1 (fast-twitch, skeletal muscle)(M)



1q21
* Vacuolar myopathy with CASQ1 aggregates - VMCQA (5.44)

CASQ2
Calsequestrin 2 (cardiac muscle)



1p13.1
* ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.129)

CAV3
Caveolin 3



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)

CAVIN1
Caveolae-associated protein 1(M)



17q21-q2
* lipodystrophy, congenital generalized, type 4 - CGL4 (1.13)

CCDC78
Coiled-coil domain-containing protein 78



16p13.3
* Centronuclear myopathy 4 - CNM4 (3.21)

CCDC88C
Coiled-coil domain containing 88C



14q32.11
* Spinocerebellar ataxia 40 - SCA40 (13.36)

CCT5
Chaperonin containing TCP1 subunit 5



5p15.2
* Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (14.136)

CDH2
Cadherin 2



18q12.1
* Arrhythmogenic right ventricular dysplasia, familial, 14 - ARVD14 (10.127)

CFAP276
Cilia- and flagella-associated protein 276



1p21.2-p13.3
* Charcot-Marie Tooth disease, intermediate - (14.22)

CFL2
Cofilin 2 (muscle)



14q12
* Nemaline myopathy - NEM7 (3.10)

CHAT
Choline 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)

CHCHD10
Coiled-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)

CHD8
Chromodomain Helicase DNA-Binding Protein 8



14q11.2
* Congenital myasthenic syndrome - (11.42)

CHKB
Choline kinase beta



22q13
* Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.44)

CHMP2B
Charged multivesicular body protein 2B



3p11.2
* Amyotrophic lateral sclerosis 17 - ALS17 (12.68)

CHP1
Calcineurin-like EF-hand protein 1



15q15.1
* Spastic ataxia 9, autosomal recessive - SPAX9 (15.95)

CHRNA1
Cholinergic 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)

CHRNB1
Cholinergic 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)

CHRND
Cholinergic 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)

CHRNE
Cholinergic 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)

CHRNG
Cholinergic receptor, nicotinic, gamma polypeptide



2q33-q34
* Escobar syndrome (multiple pterygium syndrome) - EVMPS (11.35)

CLCN1
Chloride 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)

CLN3
Ceroid-lipofuscinosis, neuronal 3 (=battenin)



16p11.2
* Autophagic vacuolar myopathy - CLN3 (5.20)

CLTCL1
Clathrin, heavy polypeptide-like 1



22q11.21
* Absence of pain, Congenital - (14.123)

CNBP
Cellular nucleic acid-binding protein



3q21.3
* Proximal myotonic myopathy - PROMM (6.2)
* Myotonic dystrophy, type 2 - DM2 (6.2)

CNTN1
Contactin-1



12q11-q12
* Congenital myopathy 12 - CMYP12 (3.40)

CNTNAP1
Contactin-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)

COA7
Cytochrome C oxidase assembly factor 7



1p32.3
* Spinocerebellar ataxia with axonal neuropathy type 3 - SCAN3 (13.96)

COL12A1
Collagen 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)

COL13A1
Collagen type XIII alpha 1 chain



10q22.1
* Congenital myasthenic syndrome type 19 - CMS19 (11.27)

COL25A1
Collagen, type XXV, alpha-1



4q25
* Fibrosis of extraocular muscles, congenital, 5 - CFEOM5 (16.8)

COL6A1
Alpha 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)

COL6A2
Alpha 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)

COL6A3
Alpha 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)

COLQ
Acetylcholinesterase collagen-like tail subunit



3p25
* Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.12)
* Myasthenic syndrome, congenital, 5 - CMS5 (11.12)

COQ2
Coenzyme Q2(M)



4q21.23
* Coenzyme Q10 deficiency 1 - COQ10D1 (16.74)

COQ4
Coenzyme Q4(M)



9q34.11
* Coenzyme Q10 deficiency 7 - COQ10D7 (16.78)

COQ5
Coenzyme Q5 Methyltransferase(M)



12q24.31
* Coenzyme Q10 deficiency - COQ10D9 (13.110)

COQ6
Coenzyme Q6(M)



14q24.3
* Coenzyme Q10 deficiency 6 - COQ10D6 (16.77)

COQ7
Coenzyme Q7(M)



16p12.3
* Coenzyme Q10 deficiency 8 - COQ10D8 (12.21, 16.79)
* Neuropathy, distal hereditary motor, autosomal recessive 9 - HMNR9 (12.21, 16.79)

COQ9
Coenzyme Q9(M)



16q21
* Coenzyme Q10 deficiency 5 - COQ10D5 (16.76)

COX15
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



10q24
* Mitochondrial complex IV deficiency, nuclear type 6 - MC4DN6 (CEMCOX2) (10.39)

COX16
Cytochrome c Oxidase Assembly Factor 16



14q24.2
* Mitochondrial complex IV deficiency - MC4DN22 (16.87)

COX20
Cytochrome c Oxidase Assembly Factor COX20



1q44
* Mitochondrial complex IV deficiency, nuclear type 11 - MC4DN11 (12.111)

COX6A1
Cytochrome c oxidase subunit VIa polypeptide 1(M)



12q24.31
* CMT recessive intermediate D - CMTRID (14.26)

COX6A2
Cytochrome c-oxidase, subunit 6A2(M)



16p11.2
* Mitochondrial complex IV deficiency, nuclear type 18 - MC4DN18 (16.70)

CPT1C
Carnitine Palmitoyltransferase 1C(M)



19q13.33
* Spastic paraplegia 73, autosomal dominant - SPG73 (15.22)

CPT2
Carnitine 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)

CRPPA
Isoprenoid synthase domain containing protein



7p21.2-p21.1
* LGMDR20 - LGMDR20 (1.51, 2.24)
* Walker-Warburg syndrome (WWS) - MDDGA7 (1.51, 2.24)

CRYAB
Crystallin, alpha B



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)

CSRP3
Cysteine 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)

CTDP1
CTD phosphatase subunit 1



18q23
* congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.134)

CTNNA3
Catenin alpha 3



10q21.3
* Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 (10.126)

CWF19L1
CWF19-like Protein 1



10q24.31
* Spinocerebellar ataxia, autosomal recessive 17 - SCAR17 (13.77)

CYP2U1
Cytochrome P450, family 2, subfamily U, polypeptide 1



4q25
* Spastic paraplegia 56, autosomal recessive - SPG56 (15.59)

CYP7B1
Cytochrome P450, family 7, subfamily B, polypeptide 1



8p12-q13
* Spastic paraplegia 5A - SPG5A (15.27)