Inherited white matter disorders
Gene: SNORD118Comment on list classification: Changed from Red to Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.Created: 8 Apr 2019, 11:38 a.m.
40 patients from 33 unrelated families with bi-allelic variants in this non-coding gene (some identified on WES, others direct sequencing). Some of the alleles postulated to be hypomorphic (presence of homozygotes in ExAC). Nevertheless, sufficient evidence for gene-phenotype association.Created: 24 Jul 2018, 8:39 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
Added a tag to explain why no Gene Ensembl ID is available for this entity.Created: 20 Feb 2017, 2:46 p.m.
Gene: snord118 has been classified as Green List (High Evidence).
Gene: snord118 has been classified as Green List (High Evidence).
Phenotypes for gene: SNORD118 were changed from 614561 to 614561; Leukoencephalopathy, brain calcifications and cysts, 614561
SNORD118 was added to Inherited white matter disorderspanel. Sources: Expert list
SNORD118 was created by richardhywel