White matter disorders and cerebral calcification - narrow panel

Gene: SNORD118

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.

Panel Version: 2.9

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 23 May 2022, 10:37 a.m. | Last Modified: 23 May 2022, 10:37 a.m.

Panel Version: 1.238

Green List (high evidence)

Green in adult white matter disorders, but presentation can be in childhood and we would like this gene to be included in the R109 panel, noting that there is already a comment to have the gene upgraded to green at the next review. Note also that the current pipeline of WGS analysis does not tier variants in this gene as it is non-coding.

Created: 3 Mar 2022, 10:53 a.m. | Last Modified: 3 Mar 2022, 10:53 a.m.

Panel Version: 1.220

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, brain calcifications, and cysts

Publications

• PMID: 33029936
• 27571260

Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. This gene is also Green on the Inherited white matter disorders (Version 1.121) and White matter disorders - adult onset (Version 1.15) panels. This gene should be rated Green at the next review.

Created: 11 Jun 2021, 1:24 p.m. | Last Modified: 11 Jun 2021, 1:24 p.m.

Panel Version: 1.175

Green List (high evidence)

Over 30 families reported, age at presentation ranged between infancy and 54 years.

Created: 16 Sep 2020, 4:30 a.m. | Last Modified: 16 Sep 2020, 4:30 a.m.

Panel Version: 1.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, brain calcifications, and cysts 614561

Publications

• 27571260