PRODH2:Ensemblv90

proline dehydrogenase 2
OMIM: 616377, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PRODH2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • hydroxyprolinemia MONDO:0009374

Red PRODH2 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 Red
    • ClinGen
    Phenotypes
    • hydroxyprolinemia MONDO:0009374

    Red PRODH2 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • ClinGen
    • Expert Review Red
    Phenotypes
    • hydroxyprolinemia MONDO:0009374