TBX6

T-box 6
OMIM: 602427, Gene2Phenotype

4 panels

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


Version 1.11

review Not set
Sources
  • UKGTN
Phenotypes
  • Spondylocostal Dysostosis
Amber TBX6 in Differences in sex development


Level 2: Endocrinology
Version 4.30
Latest signed off version: v4.22 (12 Aug 2026)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mullerian aplasia, MONDO:0019128
  • Mayer-Rokitansky-Kuster-Hauser syndrome, MONDO:0017771
Green TBX6 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 10.19
Latest signed off version: v10.0 (12 Aug 2026)

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, OMIM:122600
    • spondylocostal dysostosis 5, MONDO:0007389
    Tags
    • Q3_26_MOI
    Green TBX6 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.17
    Latest signed off version: v8.0 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Spondylocostal dysostosis 5, OMIM:122600
    • spondylocostal dysostosis 5, MONDO:0007389
    Tags
    • Q3_26_MOI