CBFB

core-binding factor beta subunit
OMIM: 121360, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CBFB in Skeletal dysplasia


Level 2: Musculoskeletal
Version 9.13
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Cleidocranial dysplasia 2, OMIM:620099
    • cleidocranial dysplasia 2, MONDO:0859307
    Green CBFB in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.11
    Latest signed off version: v7.0 (6 May 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Cleidocranial dysplasia-2, OMIM:620099
    Green CBFB in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CBFB-related cleidocranial dysplasia