Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Early onset or syndromic epilepsy v1.191 AMPD2 Rebecca Foulger Source Wessex and West Midlands GLH was added to AMPD2.
Early onset or syndromic epilepsy v1.190 AMPD2 Rebecca Foulger Source NHS GMS was added to AMPD2.
Early onset or syndromic epilepsy v1.189 AMPD2 Rebecca Foulger reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 AMPD2 Tracy Lester reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28815207, 23911318 ; Phenotypes: ?Spastic paraplegia 63 615686, Pontocerebellar hypoplasia, 615809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy AMPD2 Sarah Leigh classified AMPD2 as Green List (high evidence)
Early onset or syndromic epilepsy AMPD2 Arianna Tucci reviewed gene: AMPD2
Early onset or syndromic epilepsy AMPD2 Sarah Leigh Added gene to panel