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Likely inborn error of metabolism

Gene: GSS

Green List (high evidence)
GSS (glutathione synthetase)
EnsemblGeneIds (GRCh38): ENSG00000100983
EnsemblGeneIds (GRCh37): ENSG00000100983
OMIM: 601002, Gene2Phenotype
GSS is in 7 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

More than 3 cases reported - the variant type may determine the severity of the phenotype (PMID: 15717202). This gene is linked to Glutathione synthetase deficiency with 5-oxoprolinuria and Glutathione synthetase deficiency without 5-oxoprolinuria in Orphanet. Added the 'treatable' tag due to information from PMID:15990954 vitamins C and E to boost their antioxidant levels, and bicarbonate to correct metabolic acidosis.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutathione synthetase deficiency with 5-oxoprolinuria; Glutathione synthetase deficiency without 5-oxoprolinuria; Glutathione synthetase (GSS) deficiency; Pyroglutamic aciduria; 5-oxoprolinuria; Fanconi nephropathy; Glutathione synthetase deficiency 266130; Hemolytic anemia due to glutathione synthetase deficiency 231900

Publications

Created: 23 Feb 2017, 5:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glutathione synthetase (GSS) deficiency
  • Glutathione synthetase deficiency 266130
  • Glutathione synthetase deficiency with 5-oxoprolinuria
  • Glutathione synthetase deficiency without 5-oxoprolinuria
  • Pyroglutamic aciduria
  • 5-oxoprolinuria
  • Hemolytic anemia due to glutathione synthetase deficiency 231900
  • Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle)
  • Fanconi nephropathy
OMIM
601002
Clinvar variants
Variants in GSS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GSS. Source London North GLH was added to GSS.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: GSS was added gene: GSS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSS were set to 27604308 Phenotypes for gene: GSS were set to Glutathione synthetase (GSS) deficiency; Glutathione synthetase deficiency 266130; Glutathione synthetase deficiency with 5-oxoprolinuria; Glutathione synthetase deficiency without 5-oxoprolinuria; Pyroglutamic aciduria; 5-oxoprolinuria; Hemolytic anemia due to glutathione synthetase deficiency 231900; Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle); Fanconi nephropathy