GPX4

glutathione peroxidase 4
OMIM: 138322, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green GPX4 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

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

Green GPX4 in Mendeliome


Version 2.0

1 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 1.0

1 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 2.0

1 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 2.0

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