06 Aug 2019
Early onset or syndromic epilepsy v1.191
SNORD118
Rebecca Foulger Source Wessex and West Midlands GLH was added to SNORD118.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
SNORD118
Rebecca Foulger Source NHS GMS was added to SNORD118.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
SNORD118
Rebecca Foulger reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
SNORD118
Tracy Lester reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: ; Publications: 28177126; Phenotypes: Leukoencephalopathy brain calcifications and cysts, 614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Dec 2018
Early onset or syndromic epilepsy v0.1327
SNORD118
Sarah Leigh Marked gene: SNORD118 as ready
03 Dec 2018
Early onset or syndromic epilepsy v0.1327
SNORD118
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and in Gen2Phen gene (Plausible disease-causing mutations within, affecting or encompassing the coding region of a single gene identified in multiple (>3) unrelated cases/families with both the relevant disease (RD) and an incidental disorder). At least 13 variants reported in 13 cases in which seizures are a phenotypic feature.
03 Dec 2018
Early onset or syndromic epilepsy v0.1327
SNORD118
Sarah Leigh Gene: snord118 has been classified as Green List (High Evidence).
03 Dec 2018
Early onset or syndromic epilepsy v0.1327
SNORD118
Sarah Leigh Mode of inheritance for gene: SNORD118 was changed from to BIALLELIC, autosomal or pseudoautosomal
03 Dec 2018
Early onset or syndromic epilepsy v0.1326
SNORD118
Sarah Leigh Classified gene: SNORD118 as Green List (high evidence)
03 Dec 2018
Early onset or syndromic epilepsy v0.1326
SNORD118
Sarah Leigh Gene: snord118 has been classified as Green List (High Evidence).
03 Dec 2018
Early onset or syndromic epilepsy v0.1325
SNORD118
Sarah Leigh Publications for gene: SNORD118 were set to
03 Dec 2018
Early onset or syndromic epilepsy v0.1324
SNORD118
Sarah Leigh Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts 614561
22 Aug 2018
Early onset or syndromic epilepsy
SNORD118
Zornitza Stark reviewed gene: SNORD118
25 Jun 2018
Early onset or syndromic epilepsy
SNORD118
Sarah Leigh Added gene to panel