Genomics England

CACNA1A

calcium voltage-gated channel subunit alpha1 A

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.19	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
Green in Albinism or congenital nystagmus R-numbers: R39 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Episodic ataxia, type 2, OMIM:108500
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Developmental and epileptic encephalopathy 42, OMIM:617106, developmental and epileptic encephalopathy, 42, MONDO:0014917, Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Episodic ataxia, type 2, OMIM:108500
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes EPILEPTIC ENCEPHALOPATHY
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Developmental and epileptic encephalopathy 42, OMIM:617106, developmental and epileptic encephalopathy, 42, MONDO:0014917, Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Episodic ataxia, type 2, OMIM:108500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Developemental and epileptic encephalopathy 42, OMIM:617106, developmental and epileptic encephalopathy, 42, MONDO:0014917
Green in Paroxysmal central nervous system disorders R-numbers: R66 Signed-off version 3.0	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