1. Panels
  2. Skeletal Dysplasia_Fetal
  3. GPX4
STRs in panel
Prev Next
Regions in panel
Prev Next

Skeletal Dysplasia_Fetal

Gene: GPX4

Green List (high evidence)
GPX4 (glutathione peroxidase 4)
EnsemblGeneIds (GRCh38): ENSG00000167468
EnsemblGeneIds (GRCh37): ENSG00000167468
OMIM: 138322, Gene2Phenotype
GPX4 is in 5 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

small thorax, rhizomelic shortening, perinatal lethality described.
Sources: Literature
Created: 4 Nov 2022, 6:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia, Sedaghatian type-MIM#250220

Publications

Created: 4 Nov 2022, 6:17 a.m.

Panel version: 0.173

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondylometaphyseal dysplasia, Sedaghatian type-MIM#250220
OMIM
138322
Clinvar variants
Variants in GPX4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gpx4 has been classified as Green List (High Evidence).

10 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gpx4 has been classified as Green List (High Evidence).

4 Nov 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: GPX4 was added gene: GPX4 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPX4 were set to PMID: 24706940 Phenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type-MIM#250220 Review for gene: GPX4 was set to GREEN