GSS

glutathione synthetase
OMIM: 601002
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutathione synthetase (GSS) deficiency, Glutathione synthetase deficiency 266130, Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria, Pyroglutamic aciduria, 5-oxoprolinuria, Hemolytic anemia due to glutathione synthetase deficiency 231900, Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle), Fanconi nephropathy
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutathione synthetase deficiency, 266130, Hemolytic anemia due to glutathione synthetase deficiency, 231900, Enzyme Disorder, 231900 Enzyme Disorder, Hemolytic anemia due to glutathione synthetase deficiency, 266130 Glutathione synthetase deficiency