Genomics England
GMS Panels
Panels
Genes and Entities

ARSK

arylsulfatase family member K
OMIM: 610011
PanelMode of inheritanceDetails
2 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis, type X, OMIM:619698, mucopolysaccharidosis, type 10, MONDO:0030524
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.26
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis, type X, OMIM:619698, mucopolysaccharidosis, type 10, MONDO:0030524