GCLC

glutamate-cysteine ligase catalytic subunit
OMIM: 606857, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green GCLC in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450 Disorders of the gamma-glutamyl cycle
Green GCLC in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450
Red GCLC in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Green GCLC in Red cell disorders Level 2: Haematological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450
Green GCLC in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450 Disorders of the gamma-glutamyl cycle
Green GCLC in Aminoacidopathy Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Gamma-glutamylcysteine synthetase deficiency MONDO:0009259 Disorders of glutathione metabolism
Red GCLC in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency