Familial Meniere Disease
Gene: CACNA1AComment 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-2Created: 13 Mar 2018, 1:41 p.m.
Comment on mode of inheritance: MOI for ataxiaCreated: 13 Mar 2018, 1:40 p.m.
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 diseaseCreated: 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
Phenotypes for gene: CACNA1A were changed from Episodic ataxia type 2; migraine familial hemiplegic type 1 to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
External reviews collated. Internal clinical input. Ready for version 1.
This gene has been classified as Red List (Low Evidence).
Phenotypes for CACNA1A were set to Episodic ataxia type 2; migraine familial hemiplegic type 1
Publications for CACNA1A were set to 28787010; 8898206; 12756131
Mode of inheritance for CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for CACNA1A were set to 28787010; 8898206; 12756131
CACNA1A was added to Familial Meniere Disease panel. Sources: Literature
CACNA1A was created by Eleanor Williams