GSR

glutathione-disulfide reductase
OMIM: 138300, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red GSR in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Enzyme Disorder
  • Hemolytic anemia due to glutathione reductase deficiency
Green GSR in Rare anaemia


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hemolytic anemia due to glutathione reductase deficiency, OMIM:618660