GCLC

glutamate-cysteine ligase catalytic subunit
OMIM: 606857, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red GCLC in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.30

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450
  • {Myocardial infarction, susceptibility to}, 608446
  • Myocardial infarction, susceptibility to, 608446
Green GCLC in Cytopenias and congenital anaemias

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Enzyme Disorder
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450
  • Glutamate-cysteine ligase deficiency
Green GCLC in Rare anaemia


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
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
Green GCLC in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.620

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle)
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
Green GCLC in Likely inborn error of metabolism - targeted testing not possible


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle)
    • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
    Red GCLC in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green GCLC in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450