Familial Meniere Disease
Gene: KCNA1
KCNA1 (potassium voltage-gated channel subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels
0 reviews
Details
- Sources
-
- Literature
- OMIM
- 176260
- Clinvar variants
- Variants in KCNA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Skeletal muscle channelopathy
- Renal tubulopathies
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Familial Meniere Disease
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.
17 Jan 2018, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)KCNA1 was added to Familial Meniere Disease panel. Sources: Literature
17 Jan 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)KCNA1 was created by Eleanor Williams