PanelApp (test)
  1. Genes and Genomic Entities
  2. GPX4:Ensemblv90

GPX4:Ensemblv90

glutathione peroxidase 4
OMIM: 138322, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green GPX4 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.244

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

Green GPX4 in Mendeliome


Version 1.3802

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 0.365

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 1.482

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 1.138

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

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

    Green GPX4 in Skeletal Dysplasia_Fetal


    Level 2: Skeletal disorders
    Version 1.0

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

    Green GPX4 in Fetal anomalies


    Version 2.0

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