Miscellaneous Metabolic Disorders

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 9 cases reported and a mouse model. GCLC deficiency is an inborn error of amino acid and peptide metabolism.
Sources: NHS GMS
Created: 4 Feb 2021, 4:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450; Disorders of the gamma-glutamyl cycle

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
606857
Clinvar variants
Variants in GCLC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gclc has been classified as Green List (High Evidence).

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gclc has been classified as Green List (High Evidence).

4 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GCLC was added gene: GCLC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCLC were set to 27604308; 10515893; 18024385; 11118286; 10733484; 12663448 Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450; Disorders of the gamma-glutamyl cycle Review for gene: GCLC was set to GREEN gene: GCLC was marked as current diagnostic