Miscellaneous Metabolic Disorders
Gene: GCLCEnsemblGeneIds (GRCh38): ENSG00000001084
EnsemblGeneIds (GRCh37): ENSG00000001084
OMIM: 606857, Gene2Phenotype
GCLC is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 9 cases reported and a mouse model. GCLC deficiency is an inborn error of amino acid and peptide metabolism.
Sources: NHS GMSCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gclc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gclc has been classified as Green List (High Evidence).
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