Skeletal muscle channelopathy
Gene: KCNA1EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels
1 review
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia type 1/myokymia syndrome, 160120
Publications
- Rajakulendran et al 2009 Neurology 73, 993-5 PMID: 19770477. Jen et al 2007 Brain 130, 2484-93 PMID: 17575281
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- London North GLH
- Phenotypes
-
- Episodic ataxia type 1/myokymia syndrome OMIM:160120
- OMIM
- 176260
- Clinvar variants
- Variants in KCNA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Renal tubulopathies
- Intellectual disability
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: KCNA1 were changed from Episodic ataxia type 1/myokymia syndrome, 160120 to Episodic ataxia type 1/myokymia syndrome OMIM:160120
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene KCNA1 were changed from to 19770477; 17575281
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KCNA1.
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene KCNA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Episodic ataxia type 1/myokymia syndrome, 160120 for gene: KCNA1
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to KCNA1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: KCNA1 was added gene: KCNA1 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: KCNA1 was set to