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


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
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Vitamin D-dependent rickets, type I (264700)
Green CYP27B1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.52
Latest signed off version: v4.0 (22 Mar 2023)

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
    Green CYP27B1 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Vitamin D-dependent rickets, type I, 264700