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Epileptic encephalopathy

Gene: GSS

Green List (high evidence)

GSS (glutathione synthetase)
EnsemblGeneIds (GRCh38): ENSG00000100983
EnsemblGeneIds (GRCh37): ENSG00000100983
OMIM: 601002, Gene2Phenotype
GSS is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on'treatable' tag due to information from PMID:15990954 vitamins C and E to boost their antioxidant levels, and bicarbonate to correct metabolic acidosis.
20 Mar 2017, 11:09 a.m.
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
20 Mar 2017, 11:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutathione synthetase deficiency 266130; Hemolytic anemia due to glutathione synthetase deficiency 231900

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Glutathione synthetase deficiency 266130
  • Hemolytic anemia due to glutathione synthetase deficiency 231900
Tags
treatable
OMIM
601002
Clinvar variants
Variants in GSS
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Mar 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GSS was added to Epileptic encephalopathypanel. Sources: Expert Review

20 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GSS was created by sleigh