Familial Genetic Generalised Epilepsies

Gene: CACNA1H

Amber List (moderate evidence)

CACNA1H (calcium voltage-gated channel subunit alpha1 H)
EnsemblGeneIds (GRCh38): ENSG00000196557
EnsemblGeneIds (GRCh37): ENSG00000196557
OMIM: 607904, Gene2Phenotype
CACNA1H is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

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