TBX6:Ensemblv115

T-box transcription factor 6
OMIM: 602427, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TBX6 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
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 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
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 2.0

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

Green TBX6 in Spondylocostal Dysostosis


Level 2: Skeletal disorders
Version 1.0

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

Green TBX6 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

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