GATA5 GATA binding protein 5

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. 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
2. WEI, D., GONG, X.-H., QIU, G., WANG, J., & YANG, Y.-Q. (2014). Novel PITX2c loss-of-function mutations associated with complex congenital heart disease. International Journal of Molecular Medicine, 33(5), 1201–1208. https://doi.org/10.3892/ijmm.2014.1689 DOI:10.3892/ijmm.2014.1689 PMID:24604414
3. Wei, D., Bao, H., Zhou, N., Zheng, G.-F., Liu, X.-Y., & Yang, Y.-Q. (2012). GATA5 Loss-of-Function Mutation Responsible for the Congenital Ventriculoseptal Defect. Pediatric Cardiology, 34(3), 504–511. https://doi.org/10.1007/s00246-012-0482-6 DOI:10.1007/s00246-012-0482-6 PMID:22961344
4. SHI, L.-M., TAO, J.-W., QIU, X.-B., WANG, J., YUAN, F., XU, L., LIU, H., LI, R.-G., XU, Y.-J., WANG, Q., ZHENG, H.-Z., LI, X., WANG, X.-Z., ZHANG, M., QU, X.-K., & YANG, Y.-Q. (2014). GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. International Journal of Molecular Medicine, 33(5), 1219–1226. https://doi.org/10.3892/ijmm.2014.1700 DOI:10.3892/ijmm.2014.1700 PMID:24638895