GCLC

glutamate-cysteine ligase catalytic subunit
OMIM: 606857
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
Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle), Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 Glutamate-cysteine ligase deficiency, Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450, Glutamate-cysteine ligase deficiency, Enzyme Disorder