Familial Meniere Disease
Gene: CACNA1AEnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 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-2Created: 13 Mar 2018, 1:41 p.m.
Comment on mode of inheritance: MOI for ataxiaCreated: 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)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Episodic ataxia, type 2, OMIM:108500
- Migraine, familial hemiplegic, 1, OMIM:141500
- Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Infantile nystagmus
- Skeletal muscle channelopathy
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Brain channelopathy
- Adult onset hereditary spastic paraplegia
- Skeletal Muscle Channelopathies
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Familial Meniere Disease
- Congenital myaesthenic syndrome
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)External reviews collated. Internal clinical input. Ready for version 1.
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for CACNA1A were set to Episodic ataxia type 2; migraine familial hemiplegic type 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for CACNA1A were set to 28787010; 8898206; 12756131
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
Set publications
Eleanor Williams (Genomics England Curator)Publications for CACNA1A were set to 28787010; 8898206; 12756131
Added New Source
Eleanor Williams (Genomics England Curator)CACNA1A was added to Familial Meniere Disease panel. Sources: Literature
Created
Eleanor Williams (Genomics England Curator)CACNA1A was created by Eleanor Williams