Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Early onset or syndromic epilepsy v1.191 RAB18 Rebecca Foulger Source Wessex and West Midlands GLH was added to RAB18.
Early onset or syndromic epilepsy v1.190 RAB18 Rebecca Foulger Source NHS GMS was added to RAB18.
Early onset or syndromic epilepsy v1.189 RAB18 Rebecca Foulger reviewed gene: RAB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 RAB18 Tracy Lester reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: 21473985; Phenotypes: Warburg micro syndrome, 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1146 RAB18 Sarah Leigh Marked gene: RAB18 as ready
Early onset or syndromic epilepsy v0.1146 RAB18 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported 3 unrelated cases, each of the variants was associated with at least one case in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1146 RAB18 Sarah Leigh Gene: rab18 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1146 RAB18 Sarah Leigh Publications for gene: RAB18 were set to 15216543
Early onset or syndromic epilepsy v0.1145 RAB18 Sarah Leigh Mode of inheritance for gene: RAB18 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1144 RAB18 Sarah Leigh Classified gene: RAB18 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1144 RAB18 Sarah Leigh Gene: rab18 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1143 RAB18 Sarah Leigh Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, 614222
Early onset or syndromic epilepsy v0.1142 RAB18 Sarah Leigh Publications for gene: RAB18 were set to
Early onset or syndromic epilepsy RAB18 Zornitza Stark reviewed gene: RAB18
Early onset or syndromic epilepsy RAB18 Sarah Leigh Added gene to panel