1. Genes and Genomic Entities
  2. CYP2R1

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 3.4
Latest signed off version: v3.0 (30 Nov 2022)

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 4.65
Latest signed off version: v4.0 (22 Mar 2023)

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 4.90
    Latest signed off version: v4.0 (22 Mar 2023)

    		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