Cytopenias and congenital anaemias
Gene: GPX1
Comment when marking as ready: No clear evidence of disease in humans being linked to mutations in this gene. Not for diagnostic use on the current evidence.Created: 2 Mar 2017, 10:02 a.m.
I cannot find evidence of mutation in the gene linking with disease in humans. There are historical descriptions of cases of haemolytic anaemia with enzyme deficiencies but no cases with mutations in GPX1 as a defined cause. Not for diagnostic use on the current evidence.Created: 2 Mar 2017, 10:01 a.m.
Mode of inheritance
Unknown
Phenotypes
Hemolytic anemia due to glutathione peroxidase deficiency 614164
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enzyme Disorder; Hemolytic anemia due to glutathione peroxidase deficiency
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for GPX1 was changed to Unknown
GPX1 was created by LouiseD
GPX1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen