Familial Meniere Disease

Gene: CACNA1A

Red List (low evidence)

CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 24 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: No evidence for association with Familial Meniere's disease at this time.
Created: 13 Mar 2018, 1:44 p.m.
Comment on publications: PMIDs 8898206 and 12756131 - association with Familial Hemiplegic Migraine and Episodic Ataxia Type-2
Created: 13 Mar 2018, 1:41 p.m.
Comment on mode of inheritance: MOI for ataxia
Created: 13 Mar 2018, 1:40 p.m.

Georgios Korres (Honorary Fellow in Neuro-Otology, Royal National Throat Nose and Ear Hospital, University College London Hospitals NHS Trust)

Red List (low evidence)

The gene is linked with episodic vertigo, migraine and episodic ataxia type 2. The characteristics of those diseases are similar, but not typical of Meniere's disease
Created: 19 Feb 2018, 5:04 p.m.

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

Phenotypes
Episodic ataxia type 2; migraine familial hemiplegic type 1

Publications

History Filter Activity

27 Mar 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

External reviews collated. Internal clinical input. Ready for version 1.

13 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Mar 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for CACNA1A were set to Episodic ataxia type 2; migraine familial hemiplegic type 1

13 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for CACNA1A were set to 28787010; 8898206; 12756131

13 Mar 2018, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

13 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for CACNA1A were set to 28787010; 8898206; 12756131

17 Jan 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

CACNA1A was added to Familial Meniere Disease panel. Sources: Literature

17 Jan 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

CACNA1A was created by Eleanor Williams