Genomics England

CACNA1A

calcium voltage-gated channel subunit alpha1 A

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult onset movement disorder R-numbers: R56 Signed-off version 1.121	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Episodic ataxia, type 2, OMIM:108500, Spinocerebellar ataxia 6, OMIM:183086, Migraine, familial hemiplegic, 1, OMIM:141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green in Albinism or congenital nystagmus 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
Green in Ataxia and cerebellar anomalies - narrow panel 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
Green in Childhood onset dystonia or chorea or related movement disorder R-numbers: R57 Signed-off version 1.137	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes familial hemiplegic migraine type 1, 141500, Dystonia, episodic ataxia type 2 (EA2), 108500
Green in Genetic epilepsy syndromes 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)
Green in Hereditary ataxia - adult onset 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
Green in Intellectual disability 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
Green in Paroxysmal central nervous system disorders 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
Green in Skeletal muscle channelopathy 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