Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Early onset or syndromic epilepsy v2.545 HECW2 Arina Puzriakova Publications for gene: HECW2 were set to 27389779; 27334371; 34321324
Early onset or syndromic epilepsy v2.544 HECW2 Arina Puzriakova Publications for gene: HECW2 were set to 27389779; 27334371
Early onset or syndromic epilepsy v1.191 HECW2 Rebecca Foulger Source Wessex and West Midlands GLH was added to HECW2.
Early onset or syndromic epilepsy v1.190 HECW2 Rebecca Foulger Source NHS GMS was added to HECW2.
Early onset or syndromic epilepsy v1.189 HECW2 Rebecca Foulger reviewed gene: HECW2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 HECW2 Tracy Lester reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27389779; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy HECW2 Sarah Leigh classified HECW2 as Green List (high evidence)
Early onset or syndromic epilepsy HECW2 Sarah Leigh Added gene to panel