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Undiagnosed metabolic disorders

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle)
  • 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
Tags
treatable
OMIM
601002
Clinvar variants
Variants in GSS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

GSS was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Green Model of inheritance for gene GSS was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GSS was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GSS was created by sleigh