CYP2R1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CYP2R1 in Hypophosphataemia or rickets


Level 2: Endocrinology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

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 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

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
    Red CYP2R1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Rickets due to defect in vitamin D 25-hydroxylation deficiency, OMIM:600081
    Amber CYP2R1 in Retinal disorders


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

    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