Miscellaneous Metabolic Disorders
Gene: GSS
Well-established gene-disease association (see OMIM entry). Glutathione synthetase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMSCreated: 4 Feb 2021, 10:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900; Disorders of the gamma-glutamyl cycle
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: gss has been classified as Green List (High Evidence).
Gene: gss has been classified as Green List (High Evidence).
gene: GSS was added gene: GSS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSS were set to 8896573 Phenotypes for gene: GSS were set to Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900; Disorders of the gamma-glutamyl cycle Review for gene: GSS was set to GREEN gene: GSS was marked as current diagnostic