29 Apr 2020
Early onset or syndromic epilepsy v2.41
CACNA1H
Sarah Leigh Publications for gene: CACNA1H were set to 12891677; 32227660
21 Apr 2020
Early onset or syndromic epilepsy v2.40
CACNA1H
Sarah Leigh 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
21 Apr 2020
Early onset or syndromic epilepsy v2.39
CACNA1H
Sarah Leigh Added comment: Comment on publications: PMID 32227660 presents further evidence refuting a monogenic contribution of this gene to epilepsy.
21 Apr 2020
Early onset or syndromic epilepsy v2.39
CACNA1H
Sarah Leigh Publications for gene: CACNA1H were set to 12891677
06 Aug 2019
Early onset or syndromic epilepsy v1.191
CACNA1H
Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNA1H.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
CACNA1H
Rebecca Foulger Source NHS GMS was added to CACNA1H.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
CACNA1H
Rebecca Foulger reviewed gene: CACNA1H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
CACNA1H
Tracy Lester reviewed gene: CACNA1H: Rating: AMBER; Mode of pathogenicity: ; Publications: 15048902; Phenotypes: {Epilepsy, childhood absence, susceptibility to, 6}, 611942 , {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 , Hyperaldosteronism, familial, type IV, 617027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Sep 2018
Early onset or syndromic epilepsy v0.470
CACNA1H
Sarah Leigh Marked gene: CACNA1H as ready
26 Sep 2018
Early onset or syndromic epilepsy v0.470
CACNA1H
Sarah Leigh Gene: cacna1h has been classified as Amber List (Moderate Evidence).
08 Aug 2018
Early onset or syndromic epilepsy
CACNA1H
Zornitza Stark reviewed gene: CACNA1H
21 Jun 2018
Early onset or syndromic epilepsy
CACNA1H
Sarah Leigh classified CACNA1H as Amber List (moderate evidence)
04 Apr 2018
Early onset or syndromic epilepsy
CACNA1H
Sarah Leigh Added gene to panel