GPX4

glutathione peroxidase 4
OMIM: 138322, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green GPX4 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondylometaphyseal dysplasia, Sedaghatian type-MIM#250220

Green GPX4 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220

Green GPX4 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • NHS GMS
Phenotypes
  • Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220

Green GPX4 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220

Green GPX4 in Aminoacidopathy


Level 2: Metabolic disorders
Version 1.128

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593
    • Disorders of glutathione metabolism