P3H2

prolyl 3-hydroxylase 2
OMIM: 610341, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green P3H2 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3
Green P3H2 in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration, OMIM:614292, MONDO:0013670
Tags
  • deletions
Red P3H2 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292