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
Amber ARSK in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex
    Amber ARSK in Likely inborn error of metabolism - targeted testing not possible


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    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 Amber
    • Literature
    Phenotypes
    • Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex