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  2. Adult onset leukodystrophy
  3. SNORD118
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Adult onset leukodystrophy

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 9 panels

2 reviews

David Lynch (UCL Institute of Neurology)

Green List (high evidence)

Created: 13 Sep 2019, 4:20 p.m.
Last Modified: 13 Sep 2019, 4:20 p.m.
Panel version: 0.19

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Appropriate phenotype, sufficient cases, and external review all support gene-disease association.
Created: 13 Sep 2019, 4:22 p.m. | Last Modified: 13 Sep 2019, 4:22 p.m.
Panel Version: 0.20
New green gene recommended by external expert David Lynch UCL Institute of Neurology
Sources: Expert list
Created: 13 Sep 2019, 4:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, brain calcifications, and cysts, 614561

Publications

Created: 13 Sep 2019, 4:05 p.m.

Panel version: 0.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy, brain calcifications, and cysts, 614561
Tags
locus-type-small-nucleolar
OMIM
616663
Clinvar variants
Variants in SNORD118
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2024, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-small-nucleolar tag was added to gene: SNORD118.

13 Sep 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).

13 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: SNORD118 was added gene: SNORD118 was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNORD118 were set to 27571260 Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, 614561 Review for gene: SNORD118 was set to GREEN