ARSG

arylsulfatase G
OMIM: 610008, Gene2Phenotype

5 panels

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


Level 2: Metabolic
Version 3.5
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 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Usher syndrome, type IV 618144
Green ARSG in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
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
    Phenotypes
    • Usher syndrome, type IV, OMIM:618144
    • usher syndrome, type 4, MONDO:0029141
    Amber ARSG in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Usher syndrome, type IV, OMIM:618144
    • usher syndrome, type 4, MONDO:0029141
    Tags
    • Q3_25_promote_green
    Green ARSG in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

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