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Early onset or syndromic epilepsy v1.191 SNORD118 Rebecca Foulger Source Wessex and West Midlands GLH was added to SNORD118.
Early onset or syndromic epilepsy v1.190 SNORD118 Rebecca Foulger Source NHS GMS was added to SNORD118.
Early onset or syndromic epilepsy v1.189 SNORD118 Rebecca Foulger reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.1327 SNORD118 Sarah Leigh Marked gene: SNORD118 as ready
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.
Early onset or syndromic epilepsy v0.1327 SNORD118 Sarah Leigh Gene: snord118 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1327 SNORD118 Sarah Leigh Mode of inheritance for gene: SNORD118 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1326 SNORD118 Sarah Leigh Classified gene: SNORD118 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1326 SNORD118 Sarah Leigh Gene: snord118 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1325 SNORD118 Sarah Leigh Publications for gene: SNORD118 were set to
Early onset or syndromic epilepsy v0.1324 SNORD118 Sarah Leigh Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts 614561
Early onset or syndromic epilepsy SNORD118 Zornitza Stark reviewed gene: SNORD118
Early onset or syndromic epilepsy SNORD118 Sarah Leigh Added gene to panel