Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Early onset or syndromic epilepsy v1.191 TPP1 Rebecca Foulger Source Wessex and West Midlands GLH was added to TPP1.
Early onset or syndromic epilepsy v1.190 TPP1 Rebecca Foulger Source NHS GMS was added to TPP1.
Early onset or syndromic epilepsy v1.189 TPP1 Rebecca Foulger reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 TPP1 Tracy Lester reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17959406, 10665500, 20820830 ; Phenotypes: eroid lipofuscinosis, neuronal, 204500, Spinocerebellar ataxia, 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy TPP1 Sarah Leigh classified TPP1 as Green List (high evidence)
Early onset or syndromic epilepsy TPP1 Sarah Leigh Added gene to panel