CACNA1A

calcium voltage-gated channel subunit alpha1 A
OMIM: 601011
PanelMode of inheritanceDetails
9 panels
R-numbers: R56
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, OMIM:141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
R-numbers: R39
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 2, OMIM:108500
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
R-numbers: R57
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 2, OMIM:108500
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and epileptic encephalopathy 42, OMIM:617106, Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
R-numbers: R54
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developemental and epileptic encephalopathy 42, OMIM:617106
R-numbers: R66
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, OMIM:141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
R-numbers: R76
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, OMIM:141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500