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Fetal anomalies

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)

Variable onset, including in infancy with brain abnormalities detectable by imaging.
Created: 27 Feb 2020, 3:51 a.m. | Last Modified: 1 Mar 2022, 1:42 a.m.
Panel Version: 0.4459

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Leukoencephalopathy, brain calcifications, and cysts, MIM# 614561
Tags
non-coding gene
OMIM
616663
Clinvar variants
Variants in SNORD118
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag non-coding gene tag was added to gene: SNORD118.

1 Mar 2022, 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).

1 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SNORD118 were changed from Leukoencephalopathy with cerebral calcification & cysts to Leukoencephalopathy, brain calcifications, and cysts, MIM# 614561

1 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNORD118 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNORD118 was added gene: SNORD118 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNORD118 were set to Leukoencephalopathy with cerebral calcification & cysts