Skeletal Muscle Channelopathies

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 27 panels

5 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Amber to Green. Since the original review in 2017 there has been more evidence to support variants of this gene resulting in a phenotype suitable for inclusion
Created: 8 Nov 2019, 2:37 p.m. | Last Modified: 8 Nov 2019, 2:37 p.m.
Panel Version: 1.15
Comment on publications: added publications suggested by external reviwer on Myotonia congenita panel for GMS, new publication in particular new publication March 2018 https://www.ncbi.nlm.nih.gov/pubmed/?term=29442233 gives evidence to support variants of this gene resulting in a phenotype suitable for inclusion, there is also reference to a mouse model here : https://www.ncbi.nlm.nih.gov/pubmed/?term=28688851
Created: 8 Nov 2019, 2:37 p.m. | Last Modified: 8 Nov 2019, 2:37 p.m.
Panel Version: 1.14

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Red List (low evidence)

I don't think the evidence linking this to in the intended phenotype for this panel i.e. msucle channelopathy is compelling. On the other hand, the link to epileptic encephalopathy is quite robust and we do report de novo variants in this gene in that context.
Created: 22 Feb 2017, 3:38 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Red List (low evidence)

I don't think the evidence linking this to in the intended phenotype for this panel i.e. msucle channelopathy is compelling. On the other hand, the link to epileptic encephalopathy is quite robust and we do report de novo variants in this gene in that context.
Created: 22 Feb 2017, 3:31 p.m.

Variants in this GENE are reported as part of current diagnostic practice

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

Red List (low evidence)

this is not a Skeletal Muscle Channelopathies gene
Created: 10 Jan 2017, 3:38 p.m.

Ellen McDonagh (Genomics England Curator)

Is on the Brain Channel NGS Panel, and under Episodic ataxia: Type 1 testing, and Autosomal Dominant Spinocereballar Ataxia: 1,2,3,6,7, 12, 17 testing, in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, I am therefore unsure whether this should be included on this panel.
Created: 10 Jun 2016, 2:51 p.m.

History Filter Activity

8 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cacna1a has been classified as Green List (High Evidence).

8 Nov 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CACNA1A were set to

8 Nov 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

22 Feb 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.

7 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

CACNA1A was added to Skeletal Muscle Channelopathiespanel. Sources: UKGTN

7 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CACNA1A was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen