Genomics England
GMS Panels
Panels
Genes and Entities

KCNA1

potassium voltage-gated channel subfamily A member 1
OMIM: 176260
PanelMode of inheritanceDetails
6 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 7.0
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 6.0
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 7.0
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 7.0
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