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Fetal anomalies

Gene: GPX4

Amber List (moderate evidence)

GPX4 (glutathione peroxidase 4)
EnsemblGeneIds (GRCh38): ENSG00000167468
EnsemblGeneIds (GRCh37): ENSG00000167468
OMIM: 138322, Gene2Phenotype
GPX4 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
OMIM
138322
Clinvar variants
Variants in GPX4
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: GPX4 was added gene: GPX4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE