MYH11 myosin heavy chain 11

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

Download annotation file for MYH11: BED file

Selected References

1. Zhu, L., Vranckx, R., Van Kien, P. K., Lalande, A., Boisset, N., Mathieu, F., Wegman, M., Glancy, L., Gasc, J.-M., Brunotte, F., Bruneval, P., Wolf, J.-E., Michel, J.-B., & Jeunemaitre, X. (2006). Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nature Genetics, 38(3), 343–349. https://doi.org/10.1038/ng1721 DOI:10.1038/ng1721
2. Pannu, H., Tran-Fadulu, V., Papke, C. L., Scherer, S., Liu, Y., Presley, C., Guo, D., Estrera, A. L., Safi, H. J., Brasier, A. R., Vick, G. W., Marian, A. J., Raman, C. S., Buja, L. M., & Milewicz, D. M. (2007). MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Human Molecular Genetics, 16(20), 2453–2462. https://doi.org/10.1093/hmg/ddm201 DOI:10.1093/hmg/ddm201 PMID:17666408
3. Zhu, L., Bonnet, D., Boussion, M., Vedie, B., Sidi, D., & Jeunemaitre, X. (2007). Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct. Cardiology in the Young, 17(06). https://doi.org/10.1017/s1047951107001473 DOI:10.1017/S1047951107001473 PMID:17956658