Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Early onset or syndromic epilepsy v1.191 AP3B2 Rebecca Foulger Source Wessex and West Midlands GLH was added to AP3B2.
Early onset or syndromic epilepsy v1.190 AP3B2 Rebecca Foulger Source NHS GMS was added to AP3B2.
Early onset or syndromic epilepsy v1.189 AP3B2 Rebecca Foulger reviewed gene: AP3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 AP3B2 Tracy Lester reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889060; Phenotypes: Epileptic encephalopathy, early infantile, 617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy AP3B2 Sarah Leigh marked gene: AP3B2 as ready
Early onset or syndromic epilepsy AP3B2 Sarah Leigh classified AP3B2 as Green List (high evidence)
Early onset or syndromic epilepsy AP3B2 Arianna Tucci reviewed gene: AP3B2
Early onset or syndromic epilepsy AP3B2 Sarah Leigh Added gene to panel