Epileptic encephalopathyGene: GSS
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
Glutathione synthetase deficiency 266130; Hemolytic anemia due to glutathione synthetase deficiency 231900
This gene has been classified as Green List (High Evidence).
GSS was added to Epileptic encephalopathypanel. Sources: Expert Review
GSS was created by sleigh