Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: GPX4

Amber List (moderate evidence)

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Severe spondylodysplastic dysplasias gp of SD - only 2 cases reported? ; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia, Sedaghatian type 250220

Publications

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Demoting from Green to Amber. 3 variants but only 2 cases.
Created: 17 Jul 2019, 1:32 p.m. | Last Modified: 17 Jul 2019, 1:32 p.m.
Panel Version: 1.190
PMID: 24706940 - Smith et al 2014 - 2 cases. Case 1 - child with Sedaghatian-type spondylometaphyseal dysplasia (SSMD) heterozygous for two rare variants in GPX4;(c.587+5G>A) was inherited from the mother, and the second (c.588-8_588-4del) was de novo; both were predicted to impact splicing of GPX4. Case 2 - DNA from the child with SSMD was not available, the two unaffected parents were found by Sanger sequencing to each carry the same heterozygous stop mutation in exon 3 of GPX4, c.381C>A, p.Tyr127*.

So 3 variants but from 2 cases. PubMed search did not find any other cases.
Created: 7 May 2019, 9:10 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GPX4; Initial rating suggestion: amber
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported
Created: 28 Jul 2016, 1:36 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia, Sedaghatian type 250220

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Spondylometaphyseal dysplasia, Sedaghatian type 250220
OMIM
138322
Clinvar variants
Variants in GPX4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Jul 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: gpx4 has been classified as Amber List (Moderate Evidence).

6 May 2019, Gel status: 4

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Spondylometaphyseal dysplasia, Sedaghatian type 250220 for gene: GPX4 Publications for gene GPX4 were changed from to 24706940

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to GPX4. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

28 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type 250220

28 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for GPX4 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

GPX4 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GPX4 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GPX4 was added to Unexplained skeletal dysplasiapanel. Sources: