Brain channelopathy
Gene: KCNA1EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels
3 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: added 'treatable' tag. changed penetrance to incomplete.Created: 18 Jan 2017, 1:18 p.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Mutations in KCNA1 cause autosomal dominant episodic ataxia type 1 (EA1). Mostly caused by missense mutations, distributed throughout the gene.Created: 6 Jan 2017, 9:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
episodic ataxia type 1
Publications
Ellen McDonagh (Genomics England Curator)
Promoted from red to green as this gene is on the Brain Channel NGS Panel, and Episodic ataxia: Type 1 single gene test, in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 3:21 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- EPISODIC ATAXIA, TYPE 1
- myokymia with periodic ataxia
- Tags
- OMIM
- 176260
- Clinvar variants
- Variants in KCNA1
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- DDG2P
- Renal tubulopathies
- Adult onset neurodegenerative disorder
- Skeletal muscle channelopathy
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Intellectual disability
- Familial Meniere Disease
History Filter Activity
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for KCNA1 were set to 17575281
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for KCNA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for KCNA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Arianna Tucci (Genomics England Curator)Publications for KCNA1 were set to 17575281
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KCNA1 were set to EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)KCNA1 was added to Brain channelopathypanel. Sources: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)KCNA1 was added to Brain channelopathypanel. Sources: Eligibility statement prior genetic testing