MYH11 myosin heavy chain 11
Gene info
Synonyms
SMMHC, SMHC
Previous symbol
None
External ID
HGNC: 7569
Entrez Gene: 4629
Ensembl: ENSG00000133392
UCSC: uc002ddy.4
OMIM:
160745
UniProtKB:
P35749
Disease info
Disease
CHD Phenotype
- Patent ductus arteriosus
- Aortic aneurysm
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Homozygous null mouse has CHD
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for MYH11: BED file
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Selected References
- 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 PMID:16444274
- 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
- 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