Early onset or syndromic epilepsy
Gene: CACNA1H
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Many variants have been associated with various epilepsy phenotypes, e.g. PMID 17696120, 15048902 report an association with generalised epilepsyCreated: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 ; {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 ; Hyperaldosteronism, familial, type IV, 617027
Publications
Susceptibility gene rather than true monogenic disease.Created: 8 Aug 2018, 3:36 a.m.
Comment on publications: PMID 32227660 presents further evidence refuting a monogenic contribution of this gene to epilepsy.Created: 21 Apr 2020, 2:15 p.m. | Last Modified: 21 Apr 2020, 2:15 p.m.
Panel Version: 2.39
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
Publications for gene: CACNA1H were set to 12891677; 32227660
Phenotypes for gene: CACNA1H were changed from to Hyperaldosteronism, familial, type IV 617027; {Epilepsy, childhood absence, susceptibility to, 6} 611942; {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
Publications for gene: CACNA1H were set to 12891677
Source Wessex and West Midlands GLH was added to CACNA1H.
Source NHS GMS was added to CACNA1H.
Sarah Leigh: Associated with phenotype in O
Gene: cacna1h has been classified as Amber List (Moderate Evidence).
Publications for gene: CACNA1H were set to 12891677
Gene: cacna1h has been classified as Amber List (Moderate Evidence).
CACNA1H was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
CACNA1H was created by Sarah Leigh