Rare anaemia

Gene: GPX1

Red List (low evidence)

GPX1 (glutathione peroxidase 1)
EnsemblGeneIds (GRCh38): ENSG00000233276
EnsemblGeneIds (GRCh37): ENSG00000233276
OMIM: 138320, Gene2Phenotype
GPX1 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GPX1; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614164 Hemolytic anemia due to glutathione peroxidase deficiency; PMID(s): 1131421
Created: 8 Feb 2019, 3:49 p.m.

Frances Smith (King's College Hospital)

Red List (low evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 3:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
614164 Hemolytic anemia due to glutathione peroxidase deficiency

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London South GLH
Phenotypes
  • 614164 Hemolytic anemia due to glutathione peroxidase deficiency
OMIM
138320
Clinvar variants
Variants in GPX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to GPX1. Mode of inheritance for gene GPX1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 614164 Hemolytic anemia due to glutathione peroxidase deficiency for gene: GPX1

8 Feb 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 614164 Hemolytic anemia due to glutathione peroxidase deficiency for gene: GPX1 Publications for gene GPX1 were changed from to 1131421

8 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GPX1.

8 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GPX1 was added gene: GPX1 was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: GPX1 was set to