Hereditary ataxia

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 23 panels

2 reviews

Damian Smedley (Genomics England Curator)

Comment on mode of inheritance: not on list of imprinted genes
Created: 4 Feb 2016, 2:02 p.m.
Comment on list classification: Evidence from expert reviewer and OMIM
Created: 4 Feb 2016, 2:02 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Lots of literature, positives in our cohort. Mode of pathogenicity: loss-of-function.
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Episodic ataxia, type 2; Spinocerebellar ataxia 6; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia

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

History Filter Activity

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

4 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

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

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1A was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1A was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1A was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen