MYH7 myosin heavy chain 7

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

Selected References

1. Budde, B. S., Binner, P., Waldmüller, S., Höhne, W., Blankenfeldt, W., Hassfeld, S., Brömsen, J., Dermintzoglou, A., Wieczorek, M., May, E., Kirst, E., Selignow, C., Rackebrandt, K., Müller, M., Goody, R. S., Vosberg, H.-P., Nürnberg, P., & Scheffold, T. (2007). Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene. PLoS ONE, 2(12), e1362. https://doi.org/10.1371/journal.pone.0001362 DOI:10.1371/journal.pone.0001362 PMID:18159245
2. Postma, A. V., van Engelen, K., van de Meerakker, J., Rahman, T., Probst, S., Baars, M. J. H., Bauer, U., Pickardt, T., Sperling, S. R., Berger, F., Moorman, A. F. M., Mulder, B. J. M., Thierfelder, L., Keavney, B., Goodship, J., & Klaassen, S. (2011). Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly. Circulation: Cardiovascular Genetics, 4(1), 43–50. https://doi.org/10.1161/circgenetics.110.957985 DOI:10.1161/CIRCGENETICS.110.957985 PMID:21127202
3. Bettinelli, A. L., Mulder, T. J., Funke, B. H., Lafferty, K. A., Longo, S. A., & Niyazov, D. M. (2013). Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. American Journal of Medical Genetics Part A, 161(12), 3187–3190. Portico. https://doi.org/10.1002/ajmg.a.36182 DOI:10.1002/ajmg.a.36182 PMID:23956225