P3H2

prolyl 3-hydroxylase 2
OMIM: 610341, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green P3H2 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292

Green P3H2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292

Green P3H2 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.225

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopia, high, with cataract and vitreoretinal degeneration (MIM# 614292)
    • Proteinuria, P3H2-related MONDO:0003634

    Green P3H2 in Vitreoretinopathy


    Level 2: Ophthalmological disoders
    Version 1.4

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopia, high, with cataract and vitreoretinal degeneration MIM#614292