Aminoacidopathy
Gene: GCLCEnsemblGeneIds (GRCh38): ENSG00000001084
EnsemblGeneIds (GRCh37): ENSG00000001084
OMIM: 606857, Gene2Phenotype
GCLC is in 7 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with >3 unrelated probands reported with GCLC deficiency which is an inborn error of amino acid metabolism.
Sources: OtherCreated: 18 Jul 2024, 5:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gamma-glutamylcysteine synthetase deficiency MONDO:0009259; Disorders of glutathione metabolism
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Gamma-glutamylcysteine synthetase deficiency MONDO:0009259
- Disorders of glutathione metabolism
- OMIM
- 606857
- Clinvar variants
- Variants in GCLC
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gclc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gclc has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: GCLC was added gene: GCLC was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCLC were set to 28571779; 10515893; 18024385 Phenotypes for gene: GCLC were set to Gamma-glutamylcysteine synthetase deficiency MONDO:0009259; Disorders of glutathione metabolism Review for gene: GCLC was set to GREEN