Likely inborn error of metabolism
Gene: GCLC

GCLC (glutamate-cysteine ligase catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000001084
EnsemblGeneIds (GRCh37): ENSG00000001084
OMIM: 606857, Gene2Phenotype
GCLC is in 6 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

Created: 23 Feb 2017, 5:13 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

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

OMIM

606857

Clinvar variants

Variants in GCLC

Penetrance

None

Publications

27604308

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