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Inborn errors of metabolism

Gene: GCLC

Green List (high evidence)

GCLC (glutamate-cysteine ligase catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000001084
EnsemblGeneIds (GRCh37): ENSG00000001084
OMIM: 606857, Gene2Phenotype
GCLC is in 7 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Has a green review from BRIDGE on the Anaemias and red cell disorders gene panel, and multiple cases reported in Orphanet. This gene encodes Glutamate--cysteine ligase catalytic subunit (EC:6.3.2.2), and has previously been named 'GCS' or gamma-GCSH. PMID:11118286 reports the Gclc(-/-) homozygous knockout model is embryonic lethal.
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle)
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
OMIM
606857
Clinvar variants
Variants in GCLC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GCLC. Source London North GLH was added to GCLC.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GCLC was added gene: GCLC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCLC were set to 27604308 Phenotypes for gene: GCLC were set to Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle); Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450