CYP27B1

cytochrome P450 family 27 subfamily B member 1
OMIM: 609506, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CYP27B1 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
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Vitamin D-dependent rickets, type I (264700)
Green CYP27B1 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
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Vitamin D-dependent rickets, type I 264700
    Red CYP27B1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.138
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Vitamin D-dependent rickets, type I, OMIM:264700