Genomics England
GMS Panels
Panels
Genes and Entities

KCNA1

potassium voltage-gated channel subfamily A member 1
OMIM: 176260
PanelMode of inheritanceDetails
5 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 5.3
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 4.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
EPISODIC ATAXIA, TYPE 1, myokymia with periodic ataxia
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 5.3
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