PanelApp (test)
  1. Genes and Genomic Entities
  2. GSR:Ensemblv90

GSR:Ensemblv90

glutathione-disulfide reductase
OMIM: 138300, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber GSR in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660

Amber GSR in Red cell disorders


Level 2: Haematological disorders
Version 1.39

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
Phenotypes
  • Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660

Amber GSR in Aminoacidopathy


Level 2: Metabolic disorders
Version 1.138

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531
    • Disorders of glutathione metabolism

    Amber GSR in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Amber
    Phenotypes
    • Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531
    • Disorders of glutathione metabolism