This Panel is marked as Retired
Familial Genetic Generalised Epilepsies
Gene: CACNA1H
CACNA1H (calcium voltage-gated channel subunit alpha1 H)
EnsemblGeneIds (GRCh38): ENSG00000196557
EnsemblGeneIds (GRCh37): ENSG00000196557
OMIM: 607904, Gene2Phenotype
CACNA1H is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000196557
EnsemblGeneIds (GRCh37): ENSG00000196557
OMIM: 607904, Gene2Phenotype
CACNA1H is in 4 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and as a possible G2P. At least four variants have been reported in {Epilepsy, childhood absence, susceptibility to, 6} 611942 and two in {Epilepsy, childhood absence, susceptibility to, 6} 611942. This gene is rated as amber as variants do not always segregate with disease.Created: 19 Dec 2017, 4:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hyperaldosteronism, familial, type IV 617027; {Epilepsy, childhood absence, susceptibility to, 6} 611942; {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Hyperaldosteronism, familial, type IV 617027
- {Epilepsy, childhood absence, susceptibility to, 6} 611942
- {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
- OMIM
- 607904
- Clinvar variants
- Variants in CACNA1H
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
19 Dec 2017, Gel status: 2
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
19 Dec 2017, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)CACNA1H was added to Familial Genetic Generalised Epilepsies panel. Sources: Literature
19 Dec 2017, Gel status: 1
Created
Sarah Leigh (Genomics England Curator)CACNA1H was created by Sarah Leigh