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Gene: SNORD118

Red List (low evidence)

SNORD118 (small nucleolar RNA, C/D box 118)
EnsemblGeneIds (GRCh38): ENSG00000200463
EnsemblGeneIds (GRCh37): ENSG00000200463
OMIM: 616663, Gene2Phenotype
SNORD118 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Review by MM team: SNORD118 is a small nucleolar RNA required for ribosomal RNA processing. Biallelic variants in SNORD118 have been reported in association with leukoencephalopathy with calcifications and cysts (LCC), in more than 60 patients from more than 50 unrelated families.

It is difficult (?impossible) to predict the severity/age of onset from the genotype. In a comprehensive case series, Crow et al. 2021 report 64 individuals with age of onset varying from 3 weeks to 67 years with disease onset after 40 years in 12.5% of patients. They describe no obvious genotype-phenotype correlation that could explain this variability in age of onset. Cullinane et al 2020 describe a sibling pair with the same homozygous variant – one severely affected and the other with mild clinical features at 35yo.

There is some doubt on a population frequency basis about pathogenicity of some of the variants reported in Crow et al, and as there is no separate way of assessing pathogenicity of variants in an RNA gene, variant curation for the gene is likely to be challenging even for previously reported variants.
Created: 20 Jul 2022, 3:09 a.m. | Last Modified: 20 Jul 2022, 3:09 a.m.
Panel Version: 0.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well-established gene disease association however the phenotype can be highly variable. No obvious genotype-phenotype correlation.

Gene removed from the latest version of the Mackenzie's Mission gene panel. Sufficient coverage over this gene and confident that if a previously reported variant will be reliably detected
Created: 19 Jul 2022, 4:45 a.m. | Last Modified: 19 Jul 2022, 4:45 a.m.
Panel Version: 0.50

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 Red
  • Mackenzie's Mission
Phenotypes
  • Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive
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: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snord118 has been classified as Red List (Low Evidence).

20 Jul 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNORD118 were set to

20 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snord118 has been classified as Red List (Low Evidence).

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive