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 1.10

review Not set
Sources
  • UKGTN
Phenotypes
  • Spondylocostal Dysostosis

Green TBX6 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.145
Latest signed off version: v2.2 (13 Feb 2020)

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


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Green TBX6 in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spondylocostal dysostosis 5, 122600