GATA6 GATA binding protein 6

Gene info

Disease info

Animal model

Variant info

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

1. Variant types are single nucleotide variant or Indel
2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
3. ClinVar review status for the variant is criteria provided

Selected References

1. Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., & Yamagishi, H. (2009). GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proceedings of the National Academy of Sciences, 106(33), 13933–13938. https://doi.org/10.1073/pnas.0904744106 DOI:10.1073/pnas.0904744106 PMID:19666519
2. Li, Y.-J., & Yang, Y.-Q. (2017). An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations. Expert Review of Molecular Diagnostics, 17(4), 393–401. https://doi.org/10.1080/14737159.2017.1300062 DOI:10.1080/14737159.2017.1300062 PMID:28274167
3. WANG, X., JI, W., WANG, J., ZHAO, P., GUO, Y., XU, R., CHEN, S., & SUN, K. (2014). Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects. Molecular Medicine Reports, 10(2), 743–748. https://doi.org/10.3892/mmr.2014.2247 DOI:10.3892/mmr.2014.2247 PMID:24841381
4. Wang, J., Luo, X.-J., Xin, Y.-F., Liu, Y., Liu, Z.-M., Wang, Q., Li, R.-G., Fang, W.-Y., Wang, X.-Z., & Yang, Y.-Q. (2012). Novel GATA6 Mutations Associated with Congenital Ventricular Septal Defect or Tetralogy of Fallot. DNA and Cell Biology, 31(11), 1610–1617. https://doi.org/10.1089/dna.2012.1814 DOI:10.1089/dna.2012.1814 PMID:23020118
5. Lin, X., Huo, Z., Liu, X., Zhang, Y., Li, L., Zhao, H., Yan, B., Liu, Y., Yang, Y., & Chen, Y.-H. (2010). A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. Journal of Human Genetics, 55(10), 662–667. https://doi.org/10.1038/jhg.2010.84 DOI:10.1038/jhg.2010.84 PMID:20631719
6. Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., & Yamagishi, H. (2009). GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proceedings of the National Academy of Sciences, 106(33), 13933–13938. https://doi.org/10.1073/pnas.0904744106 DOI:10.1073/pnas.0904744106 PMID:19666519