Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Early onset or syndromic epilepsy v2.41 CACNA1H Sarah Leigh Publications for gene: CACNA1H were set to 12891677; 32227660
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
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.
Early onset or syndromic epilepsy v2.39 CACNA1H Sarah Leigh Publications for gene: CACNA1H were set to 12891677
Early onset or syndromic epilepsy v1.191 CACNA1H Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNA1H.
Early onset or syndromic epilepsy v1.190 CACNA1H Rebecca Foulger Source NHS GMS was added to CACNA1H.
Early onset or syndromic epilepsy v1.189 CACNA1H Rebecca Foulger reviewed gene: CACNA1H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.470 CACNA1H Sarah Leigh Marked gene: CACNA1H as ready
Early onset or syndromic epilepsy v0.470 CACNA1H Sarah Leigh Gene: cacna1h has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy CACNA1H Zornitza Stark reviewed gene: CACNA1H
Early onset or syndromic epilepsy CACNA1H Sarah Leigh classified CACNA1H as Amber List (moderate evidence)
Early onset or syndromic epilepsy CACNA1H Sarah Leigh Added gene to panel