CYP26B1

cytochrome P450 family 26 subfamily B member 1
OMIM: 605207, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber CYP26B1 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
    Red CYP26B1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
    Green CYP26B1 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 Green
    • Expert list
    Phenotypes
    • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
    Green CYP26B1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
    Red CYP26B1 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416