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  2. Leukodystrophy - adult onset
  3. SNORD118
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Leukodystrophy - adult onset

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 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 30 families reported, age at presentation ranged between infancy and 54 years.
Created: 14 Jan 2020, 11:04 p.m. | Last Modified: 3 May 2020, 8:01 a.m.
Panel Version: 0.38

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, brain calcifications, and cysts, MIM#614561

Publications

Created: 14 Jan 2020, 11:04 p.m.
Last Modified: 3 May 2020, 8:01 a.m.
Panel version: Imported from Leukodystrophy panel version 0.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • 614561
  • Leukoencephalopathy, brain calcifications and cysts, 614561
OMIM
616663
Clinvar variants
Variants in SNORD118
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNORD118 were set to

3 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SNORD118 was added gene: SNORD118 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNORD118 were set to 614561; Leukoencephalopathy, brain calcifications and cysts, 614561