Inherited white matter disorders
Gene: SNORD118EnsemblGeneIds (GRCh38): ENSG00000200463
EnsemblGeneIds (GRCh37): ENSG00000200463
OMIM: 616663, Gene2Phenotype
SNORD118 is in 9 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Comment 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.
Zornitza Stark (Australian Genomics)
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
Ellen McDonagh (Genomics England Curator)
Added a tag to explain why no Gene Ensembl ID is available for this entity.Created: 20 Feb 2017, 2:46 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- 614561
- Leukoencephalopathy, brain calcifications and cysts, 614561
- Tags
- OMIM
- 616663
- Clinvar variants
- Variants in SNORD118
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Intracerebral calcification disorders
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: snord118 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: snord118 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SNORD118 were changed from 614561 to 614561; Leukoencephalopathy, brain calcifications and cysts, 614561
Added New Source
Richard Scott (Genomics England Curator)SNORD118 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Richard Scott (Genomics England Curator)SNORD118 was created by richardhywel