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Prepair 1000+

Gene: GSS

Green List (high evidence)

GSS (glutathione synthetase)
EnsemblGeneIds (GRCh38): ENSG00000100983
EnsemblGeneIds (GRCh37): ENSG00000100983
OMIM: 601002, Gene2Phenotype
GSS is in 12 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

This gene causes a spectrum of disease ranging from Hemolytic anaemia due to glutathione synthetase deficiency MIM#231900 to the more severe Glutathione synthetase deficiency MIM#266130.

Glutathione synthetase deficiency MIM#266130 is characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage (OMIM) and should be reportable in a carrier screening setting.

Hemolytic anaemia due to glutathione synthetase deficiency MIM#231900 on the other hand is less severe, only causing haemolytic anaemia and some biochemical abnormalities and does not sound reportable in a carrier screening setting
Created: 20 Sep 2024, 6:26 a.m. | Last Modified: 20 Sep 2024, 6:26 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutathione synthetase deficiency MIM#266130

History Filter Activity

4 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Glutathione synthetase deficiency, 266130 (3) for gene: GSS

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GSS was added gene: GSS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130 (3)