PRDX3

peroxiredoxin 3
OMIM: 604769, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PRDX3 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.20

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Corneal dystrophy, punctiform and polychromatic pre-Descemet MIM#619871

Green PRDX3 in Mendeliome


Version 1.4220

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellar ataxia MONDO:0000437, PRDX3-related
  • Corneal dystrophy, punctiform and polychromatic pre-Descemet MIM#619871

Green PRDX3 in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.12

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Cerebellar ataxia MONDO:0000437, PRDX3-related

    Green PRDX3 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Cerebellar ataxia MONDO:0000437, PRDX3-related