Early onset or syndromic epilepsy
Gene: SNORD118
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR leukencephalopathy, brain calcifications and cysts (Labrune syndrome) - constellation of features restricted to the CNS including leukoencephalopathy, brain calcifications and cysts resulting in spasticity, dystonia, seizures and cognitive decline. Labrune et al - 3 unrelated children - clinical features included seizures (16/40 from 14 unrelated families). Jenkinson et al, 2016 - 40 patients from 33 unrelated families - bialleleic mutations in SNORD118 identified - in vitro studies done on some variants - confirmed pathogenicity. Most patients appeared to be compuond her for a severe and a mild variant.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy brain calcifications and cysts, 614561
Publications
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.Created: 3 Dec 2018, 2:30 p.m.
Seizures are part of the phenotype of this leukodystorphy.Created: 22 Aug 2018, 2:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to SNORD118.
Source NHS GMS was added to SNORD118.
Zornitza Stark: Seizures are part of the pheno
Gene: snord118 has been classified as Green List (High Evidence).
Mode of inheritance for gene: SNORD118 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: snord118 has been classified as Green List (High Evidence).
Publications for gene: SNORD118 were set to
Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts 614561
Expert Review Amber was added to SNORD118. Panel: Genetic Epilepsy Syndromes
SNORD118 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
SNORD118 was created by Sarah Leigh