TBX6

T-box 6
OMIM: 602427, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red TBX6 in Familial Neural Tube Defects


Version 1.11

review Not set
Sources
  • UKGTN
Phenotypes
  • Spondylocostal Dysostosis
Green TBX6 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
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Spondylocostal dysostosis 5 122600
    • Spondylocostal dysostosis 5 122600
    Green TBX6 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Spondylocostal dysostosis 5 122600