1. Genes and Genomic Entities
  2. ARSK

ARSK

arylsulfatase family member K
OMIM: 610011, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ARSK in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Mucopolysaccharidosis, type X, OMIM:619698
    • mucopolysaccharidosis, type 10, MONDO:0030524
    Green ARSK in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.103
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Mucopolysaccharidosis, type X, OMIM:619698
    • mucopolysaccharidosis, type 10, MONDO:0030524