TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2

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. Ackerman, J. P., Smestad, J. A., Tester, D. J., Qureshi, M. Y., Crabb, B. A., Mendelsohn, N. J., & Ackerman, M. J. (2016). Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation inTAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome. Congenital Heart Disease, 11(5), 452–461. Portico. https://doi.org/10.1111/chd.12400 DOI:10.1111/chd.12400 PMID:27452334
2. Thienpont, B., Zhang, L., Postma, A. V., Breckpot, J., Tranchevent, L.-C., Van Loo, P., Møllgård, K., Tommerup, N., Bache, I., Tümer, Z., van Engelen, K., Menten, B., Mortier, G., Waggoner, D., Gewillig, M., Moreau, Y., Devriendt, K., & Larsen, L. A. (2010). Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans. The American Journal of Human Genetics, 86(6), 839–849. https://doi.org/10.1016/j.ajhg.2010.04.011 DOI:10.1016/j.ajhg.2010.04.011 PMID:20493459
3. Weiss, K., Applegate, C., Wang, T., & Batista, D. A. S. (2015). Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot. American Journal of Medical Genetics Part A, 167(11), 2702–2706. Portico. https://doi.org/10.1002/ajmg.a.37210 DOI:10.1002/ajmg.a.37210 PMID:26139517