PanelApp (staging)
  1. Genes and Genomic Entities
  2. GCLC

GCLC

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GCLC in Mendeliome


Version 1.2302

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 0.572

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 0.278

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 1.29

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 1.48

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  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 1.133

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  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 BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency