CYP2R1

cytochrome P450 family 2 subfamily R member 1
OMIM: 608713, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CYP2R1 in Hypophosphataemia or rickets


Version 2.16
Latest signed off version: v2.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rickets due to defect in vitamin D 25-hydroxylation (600081)

Green CYP2R1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.211
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Rickets due to defect in vitamin D 25-hydroxylation, 600081

    Amber CYP2R1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    Phenotypes
    • Vogt-Koyanagi-Harada disease
    • Rickets due to defect in vitamin D 25-hydroxylation 600081