GATA4 GATA binding protein 4

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
3. ClinVar review status for the variant is criteria provided

Selected References

1. Wessels, M., & Willems, P. (2010). Genetic factors in non‐syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. Portico. https://doi.org/10.1111/j.1399-0004.2010.01435.x DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191
2. Garg, V., Kathiriya, I. S., Barnes, R., Schluterman, M. K., King, I. N., Butler, C. A., Rothrock, C. R., Eapen, R. S., Hirayama-Yamada, K., Joo, K., Matsuoka, R., Cohen, J. C., & Srivastava, D. (2003). GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature, 424(6947), 443–447. https://doi.org/10.1038/nature01827 DOI:10.1038/nature01827 PMID:12845333
3. Hirayama‐Yamada, K., Kamisago, M., Akimoto, K., Aotsuka, H., Nakamura, Y., Tomita, H., Furutani, M., Imamura, S., Takao, A., Nakazawa, M., & Matsuoka, R. (2005). Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. American Journal of Medical Genetics Part A, 135A(1), 47–52. Portico. https://doi.org/10.1002/ajmg.a.30684 DOI:10.1002/ajmg.a.30684 PMID:15810002
4. Sarkozy, A. (2005). Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. Journal of Medical Genetics, 42(2), e16–e16. https://doi.org/10.1136/jmg.2004.026740 DOI:10.1136/jmg.2004.026740 PMID:15689439
5. Tomita-Mitchell, A., Maslen, C. L., Morris, C. D., Garg, V., & Goldmuntz, E. (2007). GATA4 sequence variants in patients with congenital heart disease. Journal of Medical Genetics, 44(12), 779–783. https://doi.org/10.1136/jmg.2007.052183 DOI:10.1136/jmg.2007.052183 PMID:18055909