White matter disorders and cerebral calcification - narrow panel
Gene: SNORD118
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 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
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
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
Tag Q2_21_rating was removed from gene: SNORD118. Tag Q2_22_rating was removed from gene: SNORD118. Tag Q2_22_NHS_review was removed from gene: SNORD118.
Source NHS GMS was added to SNORD118. Source Expert Review Green was added to SNORD118. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: snord118 has been classified as Amber List (Moderate Evidence).
Tag Q2_22_rating tag was added to gene: SNORD118.
Tag locus-type-small-nucleolar tag was added to gene: SNORD118.
Publications for gene: SNORD118 were set to 28177126; 27571260
Tag Q2_22_NHS_review tag was added to gene: SNORD118.
Gene: snord118 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: SNORD118.
Phenotypes for gene: SNORD118 were changed from 614561 to Leukoencephalopathy, brain calcifications, and cysts, OMIM:614561
Checked against super panel made up of the panel constituents. Ready to promote to version 1
Added phenotypes 614561 for gene: SNORD118
gene: SNORD118 was added gene: SNORD118 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNORD118 were set to 28177126; 27571260 Phenotypes for gene: SNORD118 were set to 614561 Mode of pathogenicity for gene: SNORD118 was set to Other - please provide details in the comments