ARSG

arylsulfatase G
OMIM: 610008, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ARSG in Lysosomal storage disorder


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • North London GLH
Phenotypes
  • Usher syndrome, type IV OMIM:618144
  • usher syndrome, type 4 MONDO:0029141
Red ARSG in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Usher syndrome, type IV 618144
Red ARSG in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • neuronal ceroid lipofuscinosis
    Green ARSG in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.90
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • RetNet
    Phenotypes
    • Usher syndrome, type IV, OMIM:618144