Skeletal dysplasia
Gene: ARSKEnsemblGeneIds (GRCh38): ENSG00000164291
EnsemblGeneIds (GRCh37): ENSG00000164291
OMIM: 610011, Gene2Phenotype
ARSK is in 2 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 6:08 p.m. | Last Modified: 24 Feb 2025, 6:08 p.m.
Panel Version: 7.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 30 Sep 2024, 4:29 p.m. | Last Modified: 30 Sep 2024, 4:29 p.m.
Panel Version: 6.12
ARSK variants have been associated with Mucopolysaccharidosis, type X (OMIM:619698). A total of four homozygous ARSK variants have been reported in seven cases with OMIM:619698 in four unrelated families (PMID: 34916232; 35959767; 38292179).Created: 30 Sep 2024, 4:27 p.m. | Last Modified: 30 Sep 2024, 4:27 p.m.
Panel Version: 6.11
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Rating Amber awaiting further cases.Created: 9 Nov 2022, 4:40 p.m. | Last Modified: 9 Nov 2022, 4:40 p.m.
Panel Version: 2.224
Verheyen et al. 2022 (PMID: 34916232) reported four affected individuals of two unrelated consanguineous families with homozygous variants c.250C>T, p.(Arg84Cys) and c.560T>A, p.(Leu187Ter) in ARSK, respectively. Patients were affected with skeletal dysplasia, resembling spondyloepiphysial dysplasia. Reverse phenotyping in two individuals from one family revealed additional cardiac and ophthalmological abnormalities.
Sources: LiteratureCreated: 9 Nov 2022, 4:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Mucopolysaccharidosis, type X, OMIM:619698
- mucopolysaccharidosis, type 10, MONDO:0030524
- OMIM
- 610011
- Clinvar variants
- Variants in ARSK
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: ARSK.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to ARSK. Source Expert Review Green was added to ARSK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: arsk has been classified as Amber List (Moderate Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: ARSK.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ARSK were changed from Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex to Mucopolysaccharidosis, type X, OMIM:619698; mucopolysaccharidosis, type 10, MONDO:0030524
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ARSK were set to 34916232
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: arsk has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: ARSK was added gene: ARSK was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSK were set to 34916232 Phenotypes for gene: ARSK were set to Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex Review for gene: ARSK was set to AMBER