CACNA1A

calcium voltage-gated channel subunit alpha1 A
OMIM: 601011
PanelMode of inheritanceDetails
9 panels
R-numbers: R56
Signed-off version 1.14
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
familial hemiplegic migraine type 1, 141500, episodic ataxia type 2 (EA2),108500
R-numbers: R39
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CACNA1A-Related Episodic Ataxia Type 2, Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia, Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Spinocerebellar ataxia 6, Episodic ataxia, type 2
R-numbers: R57
Signed-off version 1.58
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
familial hemiplegic migraine type 1, 141500, Dystonia, episodic ataxia type 2 (EA2), 108500
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 42, 617106, Epilepsy and migraine, Absence epilepsy, Migraine, familial hemiplegic, 1, 141500, Familial hemiplegic migraine 1 (FHM)
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SCA6, 183086, familial hemiplegic migraine type 1, 141500, Episodic ataxia, type 2, Spinocerebellar ataxia 6, Familial hemiplegic migraine 1, 141500, Episodic ataxia type 2, 108500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, episodic ataxia type 2 (EA2),108500
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 42 617106, Episodic ataxia, type 2 108500, Migraine, familial hemiplegic, 1 141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500, Spinocerebellar ataxia 6 183086
R-numbers: R66
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500, EA2, Migraine, familial hemiplegic, 1, 141500, Episodic Ataxia, Type 2, familial hemiplegic migraine type 1, 141500, episodic ataxia type 2 (EA2),108500, Spinocerebellar ataxia 6, 183086, Episodic ataxia, type 2, 108500
R-numbers: R76
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia 2 with periodic paralysis, Epileptic encephalopathy, early infantile, 42, 617106, Migraine, familial hemiplegic, 1, 141500, Episodic ataxia, type 2, 108500