GCLC

glutamate-cysteine ligase catalytic subunit
OMIM: 606857, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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 1.617	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 5.3 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