Brain channelopathy

Gene: CACNA1A

Green List (high evidence)

CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 25 panels

3 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Added 'treatable' tags
Created: 18 Jan 2017, 1:04 p.m.

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

A range of phenotypes are associated with mutations in CACNA1A. as a general rule, all FHM1 mutations are missense
mutations and most, but not all, EA2 mutations disrupt the open reading frame, likely subject to nonsense mediated
mRNA decay or rapid degradation of truncated protein products. Spinocerebellar ataxia type 6 (SCA6) are caused by CAG repeat expansion the in carboxy terminus.
Created: 6 Jan 2017, 9:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
episodic ataxia type 2 (EA2), familial hemiplegic migraine type 1 (FHM1), spinocerebellar ataxia type 6 (SCA6)

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green as this gene is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 3:18 p.m.

History Filter Activity

10 Aug 2018, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: CACNA1A were set to 17575281; 21734179

22 Feb 2017, Gel status: 4

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for CACNA1A were set to episodic ataxia type 2 (EA2),108500; familial hemiplegic migraine type 1, 141500;

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 Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for CACNA1A were set to episodic ataxia type 2 (EA2), familial hemiplegic migraine type 1; dominant, long duration episodic ataxia

18 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for CACNA1A were set to 17575281

18 Jan 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for CACNA1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CACNA1A were set to EPISODIC ATAXIA, TYPE 2; MIGRAINE, FAMILIAL HEMIPLEGIC, 1; dominant, long duration episodic 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).

5 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1A was added to Brain channelopathypanel. Sources: UKGTN

5 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1A was added to Brain channelopathypanel. Sources: Eligibility statement prior genetic testing