Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Early onset or syndromic epilepsy v1.191 PDSS2 Rebecca Foulger Source Wessex and West Midlands GLH was added to PDSS2.
Early onset or syndromic epilepsy v1.190 PDSS2 Rebecca Foulger Source NHS GMS was added to PDSS2.
Early onset or syndromic epilepsy v1.189 PDSS2 Rebecca Foulger reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PDSS2 Tracy Lester reviewed gene: PDSS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency primary 3, 614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1529 PDSS2 Sarah Leigh Marked gene: PDSS2 as ready
Early onset or syndromic epilepsy v0.1529 PDSS2 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1529 PDSS2 Sarah Leigh Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy PDSS2 Zornitza Stark reviewed gene: PDSS2
Early onset or syndromic epilepsy PDSS2 Sarah Leigh Added gene to panel