PanelApp (stage)
  1. Genes and Genomic Entities
  2. TBX6

TBX6

T-box 6
OMIM: 602427, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TBX6 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Spondylocostal dysostosis 5, 122600

Green TBX6 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.138

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related
    • Combined skeletal-kidney dysplasia syndrome

    Red TBX6 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Spondylocostal dysostosis 5, MIM#122600

    Green TBX6 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spondylocostal dysostosis 5, 122600
    • Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related

    Green TBX6 in Spondylocostal Dysostosis


    Level 2: Skeletal disorders
    Version 0.10

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spondylocostal dysostosis 5, 122600

    Green TBX6 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Spondylocostal dysostosis 5 122600

    Green TBX6 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
    Phenotypes
    • Spondylocostal dysostosis 5 , MIM#122600