Aminoacidopathy
Gene: GPX4EnsemblGeneIds (GRCh38): ENSG00000167468
EnsemblGeneIds (GRCh37): ENSG00000167468
OMIM: 138322, Gene2Phenotype
GPX4 is in 5 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
SSMD is an inborn error of gluthathione metabolism. Reports of four children (two were siblings from a consanguineous family) with SSMD. Parents were unaffected carriers.
LoF is the mechanism of disease.
Sources: OtherCreated: 18 Jul 2024, 7:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593; Disorders of glutathione metabolism
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593
- Disorders of glutathione metabolism
- OMIM
- 138322
- Clinvar variants
- Variants in GPX4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gpx4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gpx4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: GPX4 was added gene: GPX4 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPX4 were set to 24706940; 32827718 Phenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593; Disorders of glutathione metabolism Review for gene: GPX4 was set to GREEN