Red cell disorders
Gene: GPX1

GPX1 (glutathione peroxidase 1)
EnsemblGeneIds (GRCh38): ENSG00000233276
EnsemblGeneIds (GRCh37): ENSG00000233276
OMIM: 138320, Gene2Phenotype
GPX1 is in 4 panels

1 review

Danielle Ariti (University of Melbourne)

Red List (low evidence)

No individuals reported with GPX1 variants identified as the defined cause of Haemolytic anaemia due to glutathione peroxidase deficiency.

Multiple literatures explain a number of cases of Haemolytic anaemia due to glutathione peroxidase deficiency, however there is no defined link or variant to GPX1 (PMID: 5766310. PMID: 1131421, PMID: 2492138, PMID: 476008)

Overall, lowered glutathione peroxidase activity has been observed in a number of individuals with haemolytic anaemia however the evidence for a cause-and-effect relationship between the enzyme deficiency and the presenting anaemia is not evident.
Created: 16 Sep 2021, 5:22 a.m. | Last Modified: 16 Sep 2021, 5:22 a.m.

Panel Version: 0.159

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164

Publications

Created: 16 Sep 2021, 5:22 a.m.
Last Modified: 16 Sep 2021, 5:22 a.m.
Panel version: 0.159

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
London South GLH
NHS GMS

Phenotypes

Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164

OMIM

138320

Clinvar variants

Variants in GPX1

Penetrance

None

Publications

Panels with this gene