Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6911
MIM: 602427
HGNC: 11605
Ensembl: ENSG00000149922
Variants:
dbSNP: 6911
ClinVar: 6911
TCGA: ENSG00000149922
COSMIC: TBX6
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36112137 | 2022 | Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. | 3 |
| 36161696 | 2022 | TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome. | 4 |
| 36112137 | 2022 | Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. | 3 |
| 36161696 | 2022 | TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome. | 4 |
| 32672867 | 2021 | Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China. | 6 |
| 32672867 | 2021 | Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China. | 6 |
| 31471994 | 2020 | TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. | 16 |
| 31888956 | 2020 | Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice. | 15 |
| 33058178 | 2020 | An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis. | 2 |
| 31471994 | 2020 | TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. | 16 |
| 31888956 | 2020 | Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice. | 15 |
| 33058178 | 2020 | An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis. | 2 |
| 30307510 | 2019 | TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. | 32 |
| 30604070 | 2019 | Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract. | 4 |
| 30636772 | 2019 | TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. | 41 |
Citation
Dessen P
TBX6 (T-box transcription factor 6)
Atlas Genet Cytogenet Oncol Haematol. 2018-07-01
Online version: http://atlasgeneticsoncology.org/gene/57456/tbx6-(t-box-transcription-factor-6)
