Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Early onset or syndromic epilepsy v1.191 ATP6V0A2 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP6V0A2.
Early onset or syndromic epilepsy v1.190 ATP6V0A2 Rebecca Foulger Source NHS GMS was added to ATP6V0A2.
Early onset or syndromic epilepsy v1.189 ATP6V0A2 Rebecca Foulger reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 ATP6V0A2 Tracy Lester reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18157129, 22773132 ; Phenotypes: Cutis laxa, type IIA,219200, Wrinkly skin syndrome,278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy ATP6V0A2 Sarah Leigh Added gene to panel