Genomics England

KCNA1

potassium voltage-gated channel subfamily A member 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Episodic ataxia/myokymia syndrome,
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes EPISODIC ATAXIA, TYPE 1, myokymia with periodic ataxia
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 6.9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Episodic ataxia/ myokymia syndrome, OMIM:160120, epilepsy, MONDO:0005027
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 6.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes myokymia with periodic ataxia, Episodic ataxia/myokymia syndrome, EPISODIC ATAXIA, TYPE 1, Episodic ataxia/myokymia syndrome, 160120
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, EPISODIC ATAXIA, TYPE 1, Episodic ataxia/myokymia syndrome, 160120, EA1, Myokymia, myokymia with periodic ataxia, Episodic Ataxia, Type 1
Green in Skeletal muscle channelopathy R-numbers: R76 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Episodic ataxia type 1/myokymia syndrome OMIM:160120