Cytopenias and congenital anaemias
Gene: GSSComment when marking as ready: Relevant phenotype plus sufficient cases for causation.Created: 9 Mar 2017, 10:51 a.m.
Comment on list classification: Updated rating from Red to Green: At least 3 cases to support GSS-deficiency as cause for hemolytic anemia: E.g. PMID:8896573 (Scottish) plus 2 unrelated Spanish patients in PMID:11167850.Created: 9 Mar 2017, 10:50 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 9 Mar 2017, 10:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for GSS were set to Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency, 231900; Glutathione synthetase deficiency, 266130
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for GSS were set to Hemolytic anemia due to glutathione synthetase deficiency, 231900; Glutathione synthetase deficiency, 266130
Mode of inheritance for GSS was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for GSS were set to 10450861; 16435214; 8896573; 11167850
GSS was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
GSS was created by LouiseD