Childhood onset dystonia, chorea or related movement disorder
Gene: SNORD118
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 6:27 p.m. | Last Modified: 30 Jan 2023, 6:34 p.m.
Panel Version: 2.10
Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene. Numervous variants have been reported in cases with Leukoencephalopathy, brain calcifications, and cysts (OMIM:614561), which include features of motor involvement (PMID: 33029936).Created: 23 May 2022, 11:01 a.m. | Last Modified: 23 May 2022, 11:01 a.m.
Panel Version: 1.235
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 23 May 2022, 10:40 a.m. | Last Modified: 23 May 2022, 10:40 a.m.
Panel Version: 1.233
At least 6 cases/families reported with dystonia as a feature of the condition.
Sources: Expert listCreated: 10 Sep 2020, 8:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy, brain calcifications, and cysts MIM#614561
Publications
Tag Q2_22_rating was removed from gene: SNORD118.
Source Expert Review Green was added to SNORD118. Source NHS GMS was added to SNORD118. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: SNORD118 were set to 27571260
Tag locus-type-small-nucleolar tag was added to gene: SNORD118. Tag Q2_22_rating tag was added to gene: SNORD118.
Phenotypes for gene: SNORD118 were changed from Leukoencephalopathy, brain calcifications, and cysts MIM#614561 to Leukoencephalopathy, brain calcifications, and cyst, OMIM:614561
Gene: snord118 has been classified as Amber List (Moderate Evidence).
gene: SNORD118 was added gene: SNORD118 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNORD118 were set to 27571260 Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts MIM#614561 Review for gene: SNORD118 was set to GREEN