This Panel is marked as Retired
Epileptic encephalopathy
Gene: GSS
GSS (glutathione synthetase)
EnsemblGeneIds (GRCh38): ENSG00000100983
EnsemblGeneIds (GRCh37): ENSG00000100983
OMIM: 601002, Gene2Phenotype
GSS is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000100983
EnsemblGeneIds (GRCh37): ENSG00000100983
OMIM: 601002, Gene2Phenotype
GSS is in 7 panels
1 review
Sarah Leigh (Genomics England Curator)
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.Created: 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.Created: 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
- 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