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Mendeliome

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 24706940
2x families.
The first, maternally inherited splice and a de novo splice
The second is a consaguineous family was a hom nonsense but DNA from deceased infant and parents were sequenced

PMID: 32827718
1x consaguineous family with 2x infants who died within first week of life. Hom for a fs variant
Created: 3 Jan 2022, 10:57 p.m. | Last Modified: 3 Jan 2022, 10:57 p.m.
Panel Version: 0.10448

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220

Publications

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

Details

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

History Filter Activity

4 Jan 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 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GPX4 were changed from to Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220

4 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GPX4 were set to

4 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GPX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GPX4 was added gene: GPX4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GPX4 was set to Unknown