Brain channelopathy
Gene: KCNA1Comment when marking as ready: added 'treatable' tag. changed penetrance to incomplete.Created: 18 Jan 2017, 1:18 p.m.
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
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.
This gene has been classified as Green List (High Evidence).
Promoted to V1. January 23 2017
This gene has been classified as Green List (High Evidence).
Publications for KCNA1 were set to 17575281
Mode of inheritance for KCNA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for KCNA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for KCNA1 were set to 17575281
Phenotypes for KCNA1 were set to EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
KCNA1 was added to Brain channelopathypanel. Sources: UKGTN
KCNA1 was added to Brain channelopathypanel. Sources: Eligibility statement prior genetic testing