Cytopenias and congenital anaemias

Gene: GPX1

Red List (low evidence)

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

Green List (high evidence)

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