Gene table



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

C10orf2
chromosome 10 open reading frame 2(M)



10q24.31
* Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.49, 16.18)
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.49, 16.18)

C12orf65
adaptor-related protein complex 4, sigma 1 subunit(M)



12q24.31
* Spastic paraplegia 55, autosomal recessive - SPG55 (15.50)

C19orf12
chromosome 19 open reading frame 12(M)



19q12
* Spastic paraplegia 43, autosomal recessive - SPG43 (15.38)
* Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.38)

C9orf72
Chromosome 9 open reading frame 72



9p21.2
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS (12.62)

CACNA1A
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



19p13.2-p13.1
* Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.40, 13.45)
* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.40, 13.45)
* Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.40, 13.45)
* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.40, 13.45)
* Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.40, 13.45)

CACNA1C
Calcium channel, voltage-dependent, L type, alpha 1C subunit



12p13.3
* brugada syndrome 3 - (10.109, 10.136)
* Timothy syndrome - LQT8 (10.109, 10.136)

CACNA1G
calcium voltage-gated channel subunit alpha1 G



17q21.33
* Spinocerebellar ataxia 42 - SCA42 (13.38)

CACNA1S
Calcium channel, voltage-dependent, L type, alpha 1S subunit



1q32
* Hypokalemic periodic paralysis - CACNL1A3 (3.45, 7.8, 8.5)
* Congenital myopathy with ophthalmoplegia related to CACNA1S - (3.45, 7.8, 8.5)
* Malignant hyperthermia susceptibility 5 - MHS5 (3.45, 7.8, 8.5)
* Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (3.45, 7.8, 8.5)

CACNB2
Calcium channel, voltage-dependent, beta 2 subunit



10p12
* brugada syndrome 4 - (10.137)

CACNB4
Calcium channel, voltage-dependent, beta 4 subunit



2q22-q23
* episodic ataxia type 5, included - EA5 (13.42)

CAPN1
Calpain 1



11q13.1
* Spastic paraplegia 76, autosomal recessive - SPG76 (15.59)

CAPN3
Calpain 3



15q15.1-q21.1
* Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.21)

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



1q21
* Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates - (16.30)

CASQ2
Calsequestrin 2 (cardiac muscle)



1p13.3-p11
* ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.92)

CAV3
Caveolin 3



3p25
* Distal myopathy related to caveolin - (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* cardiomyopathy, familial hypertrophic - CMH (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Creatine phosphokinase, elevated serum - CPK (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Rippling muscle disease - RMD2 (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Long QT syndrome 9 - LQT9 (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Hyperckemia, idiopathic - (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)

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 - (14.100)

CFL2
Cofilin 2 (muscle)



14q12
* Nemaline myopathy - NEM7 (3.7)

CHAT
Choline acetyltransferase isoform



10q11.2
* Myasthenia gravis, autosomal recessive - MGI (11.12)
* Myasthenia gravis, familial infantile - FIMG (11.12)
* Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA (11.12)
* Myasthenia gravis, familial infantile, 2 - FIMG2 (11.12)

CHCHD10
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



22q11.2-q13.2
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.32, 12.63, 16.29)
* Mitochondrial myopathy - (12.32, 12.63, 16.29)
* late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.32, 12.63, 16.29)

CHKB
Choline kinase beta



22q13
* Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.42)

CHMP2B
Charged multivesicular body protein 2B



3p11.2
* Amyotrophic lateral sclerosis 17 - ALS17 (12.55)

CHRNA1
Cholinergic receptor, nicotinic, alpha polypeptide 1



2q24-q32
* Myasthenic syndrome, fast-channel congenital - FCCMS (11.1, 11.5)
* Myasthenic syndrome, slow-channel congenital - SCCMS (11.1, 11.5)

CHRNB1
Cholinergic receptor, nicotinic, beta 1 muscle



17p13.1
* Myasthenic syndrome, congenital, Ie, included - CMS1E (11.2, 11.8)
* Myasthenic syndrome, slow-channel congenital - SCCMS (11.2, 11.8)

CHRND
Cholinergic receptor, nicotinic, delta



2q33-q34
* Myasthenic syndrome, slow-channel congenital - SCCMS (11.3, 11.6, 11.9)
* Myasthenic syndrome, fast-channel congenital - FCCMS (11.3, 11.6, 11.9)

CHRNE
Cholinergic receptor, nicotinic, epsilon



17p13-p12
* Myasthenic syndrome, fast-channel congenital - FCCMS (11.4, 11.7, 11.10)
* Myasthenic syndrome, slow-channel congenital - SCCMS (11.4, 11.7, 11.10)

CHRNG
Cholinergic receptor, nicotinic, gamma polypeptide



2q33-q34
* Escobar syndrome (multiple pterygium syndrome) - EVMPS (11.21)

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 - (5.14)

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 lethal myopathy - (3.42)

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 (11.29)

COL6A1
Alpha 1 type VI collagen



21q22.3
* Bethlem myopathy - (2.2, 2.6)
* Ullrich congenital muscular dystrophy - UCMD (2.2, 2.6)

COL6A2
Alpha 2 type VI collagen



21q22.3
* myosclerosis, autosomal recessive - (2.3, 2.5, 2.7, 2.12)
* Bethlem myopathy - (2.3, 2.5, 2.7, 2.12)
* Ullrich scleroatonic muscular dystrophy - UCMD (2.3, 2.5, 2.7, 2.12)

COL6A3
Alpha 3 type VI collagen



2q37
* Bethlem myopathy - (2.4, 2.8)
* Ullrich congenital muscular dystrophy - UCMD (2.4, 2.8)

COLQ
Acetylcholinesterase collagen-like tail subunit



3p25
* Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.13)

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



10q24
* Hypertrophic cardiomyopathy, early-onset fatal related to COX15 - (10.27)

COX6A1
Cytochrome c oxidase subunit VIa polypeptide 1(M)



12q24.31
* CMT recessive intermediate D - CMTRID (14.74)

CPT2
Carnitine palmitoyltransferase II(M)



1p32
* CPT deficiency, hepatic, type II - CPT2 (9.16)
* Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.16)
* Myopathy due to CPT II deficiency - CPT2 (9.16)

CRYAB
Crystallin, alpha B



11q22.3-q23.1
* Dilated cardiomyopathy related to alpha-crystallin - (5.1, 10.54)
* Myofibrillar myopathy, alpha-B crystallin related - (5.1, 10.54)
* Myopathy, myofibrillar, 2 - MFM2 (5.1, 10.54)

CSRP3
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



11p15.1
* Cardiomyopathy, dilated, 1M - CMD1M (10.11, 10.42)
* Cardiomyopathy, familial hypertrophic, 12 - CMH12 (10.11, 10.42)

CTDP1
CTD phosphatase subunit 1



18q23
* congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.98)

CTNNA3
Catenin alpha 3



10q21.3
* Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 (10.90)

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



4q25
* Spastic paraplegia 56, autosomal recessive - SPG56 (15.51)

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



8p12-q13
* Spastic paraplegia 5A - SPG5A (15.19)