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 8.34
Latest signed off version: v8.0 (30 Apr 2025)

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 DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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
    Green CBFB in Cleidocranial Dysplasia


    Level 2: Musculoskeletal
    Version 2.3
    Latest signed off version: v2.0 (30 Apr 2025)

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