Inherited white matter disorders

Gene: SNORD118

Green List (high evidence)

SNORD118 (small nucleolar RNA, C/D box 118)
EnsemblGeneIds (GRCh38): ENSG00000200463
EnsemblGeneIds (GRCh37): ENSG00000200463
OMIM: 616663, Gene2Phenotype
SNORD118 is in 8 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)

Green List (high evidence)

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.

Richard Scott (Genomics England Curator)

I don't know

Non-coding
Created: 20 Feb 2017, 1:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
614561

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 614561
  • Leukoencephalopathy, brain calcifications and cysts, 614561
Tags
locus-type-small-nucleolar
OMIM
616663
Clinvar variants
Variants in SNORD118
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

8 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: snord118 has been classified as Green List (High Evidence).

8 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: snord118 has been classified as Green List (High Evidence).

8 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SNORD118 were changed from 614561 to 614561; Leukoencephalopathy, brain calcifications and cysts, 614561

20 Feb 2017, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

SNORD118 was added to Inherited white matter disorderspanel. Sources: Expert list

20 Feb 2017, Gel status: 0

Created

Richard Scott (Genomics England Curator)

SNORD118 was created by richardhywel