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

CHD Phenotype

  • Persistent ductus arteriosus
  • Aorta aneurism

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.

  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

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Selected References

  1. Zhu, L., Vranckx, R., Van Kien, P. K., Lalande, A., Boisset, N., Mathieu, F., … 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. DOI:10.1038/ng1721 PMID:16444274
  2. Pannu, H., Tran-Fadulu, V., Papke, C. L., Scherer, S., Liu, Y., Presley, C., … 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. 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). DOI:10.1017/S1047951107001473 PMID:17956658