Lysosomal Storage Disorder

Gene: ARSK

Green List (high evidence)

ARSK (arylsulfatase family member K)
EnsemblGeneIds (GRCh38): ENSG00000164291
EnsemblGeneIds (GRCh37): ENSG00000164291
OMIM: 610011, Gene2Phenotype
ARSK is in 3 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

4 individuals from 2 unrelated consanguineous families reported with a homozygous missense and an NMD-predicted nonsense variant, who had features of mucopolysaccharidosis such as short stature, coarse facial features and dysostosis multiplex. Urinary GAG excretion was normal by conventional methods, but LC-MS/MS in 2 individuals revealed an increase in specific dermatan sulfate-derived disaccharides. Functional studies showed reduced protein levels and reduced enzyme activity for the nonsense and missense variant respectively.

A mouse model also shows a mucopolysaccharidosis phenotype, albeit milder.

Rated green (2 families, functional evidence, mouse model).
Sources: Literature
Created: 1 Feb 2022, 11:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis MONDO:0019249, ARSK-related
OMIM
610011
Clinvar variants
Variants in ARSK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arsk has been classified as Green List (High Evidence).

1 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARSK were changed from Mucopolysaccharidosis MONDO:0019249, ARSK-related to Mucopolysaccharidosis MONDO:0019249, ARSK-related

1 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARSK were changed from Mucopolysaccharidosis to Mucopolysaccharidosis MONDO:0019249, ARSK-related

1 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arsk has been classified as Green List (High Evidence).

1 Feb 2022, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: ARSK was added gene: ARSK was added to Lysosomal Storage Disorder. Sources: Literature Mode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSK were set to 34916232; 32856704 Phenotypes for gene: ARSK were set to Mucopolysaccharidosis Review for gene: ARSK was set to GREEN gene: ARSK was marked as current diagnostic