GSR

glutathione-disulfide reductase
OMIM: 138300, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber GSR in Mendeliome


Version 2.0

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 2.0

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 2.0

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