Familial cerebral small vessel disease

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous variants reported for this phenotype
Created: 1 Jul 2016, 5:10 p.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE Study
Created: 1 Jul 2016, 5:10 p.m.

Rhea Tan (University of Cambridge)

Red List (low evidence)

White matter hyperintensities on T2-weighted imaging have been described in one family with autosomal dominant Familial Hemiplegic Migraine, and in an individual with compound heterozygous mutations in the CACNA1A gene and early-onset epileptic encephalopathy
Created: 30 Jun 2016, 8:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial Hemiplegic Migraine; epilepsy; encephalopathy

Publications

History Filter Activity

4 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CACNA1A were set to Episodic ataxia, type 2 108500; Migraine, familial hemiplegic, 1 141500 AD; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6 183086

4 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CACNA1A were set to 20682717; 12756131; 27250579

1 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

CACNA1A was added to Familial cerebral small vessel diseasepanel. Sources: Expert list

1 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Jul 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

CACNA1A was added to Familial cerebral small vessel diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

1 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CACNA1A were set to Migraine, familial hemiplegic, 1 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; cerebral small vessel disease

22 Jun 2016, Gel status: 0

Added New Source

Rhea Tan (University of Cambridge)

CACNA1A was added to Familial cerebral small vessel diseasepanel. Sources: Literature

22 Jun 2016, Gel status: 0

Created

Rhea Tan (University of Cambridge)

CACNA1A was created by rheatan