Brain channelopathy

Gene: KCNA1

Green List (high evidence)

KCNA1 (potassium voltage-gated channel subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 19 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)

Green List (high evidence)

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.

History Filter Activity

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Jan 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1. January 23 2017

18 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for KCNA1 were set to 17575281

18 Jan 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for KCNA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 Jan 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for KCNA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for KCNA1 were set to 17575281

10 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KCNA1 were set to EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNA1 was added to Brain channelopathypanel. Sources: UKGTN

5 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNA1 was added to Brain channelopathypanel. Sources: Eligibility statement prior genetic testing