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  3. SNORD118
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Childhood onset dystonia, chorea or related movement disorder

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 9 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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
Created: 30 Jan 2023, 6:27 p.m.
Last Modified: 30 Jan 2023, 6:34 p.m.
Panel version: 2.10

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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
Created: 23 May 2022, 10:40 a.m.
Last Modified: 23 May 2022, 10:40 a.m.
Panel version: 1.235

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 6 cases/families reported with dystonia as a feature of the condition.
Sources: Expert list
Created: 10 Sep 2020, 8:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, brain calcifications, and cysts MIM#614561

Publications

Created: 10 Sep 2020, 8:55 a.m.

Panel version: 1.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy, brain calcifications, and cyst, OMIM:614561
Tags
locus-type-small-nucleolar
OMIM
616663
Clinvar variants
Variants in SNORD118
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_22_rating was removed from gene: SNORD118.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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)

23 May 2022, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SNORD118 were set to 27571260

23 May 2022, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-small-nucleolar tag was added to gene: SNORD118. Tag Q2_22_rating tag was added to gene: SNORD118.

23 May 2022, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SNORD118 were changed from Leukoencephalopathy, brain calcifications, and cysts MIM#614561 to Leukoencephalopathy, brain calcifications, and cyst, OMIM:614561

23 May 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: snord118 has been classified as Amber List (Moderate Evidence).

10 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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