MYH7 myosin heavy chain 7

Gene info

Synonyms

CMD1S

Previous symbol

CMH1, MPD1

External ID

HGNC: 7577
Entrez Gene: 4625
Ensembl: ENSG00000092054
UCSC: uc001wjx.4
OMIM: 160760
UniProtKB: P12883

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ebstein anomaly
  • Left ventricular noncompaction

Extra Cardiac Phenotype

None

Incomplete penetrance

Yes

Variable expressivity

Yes

Animal model

Mouse study

MGI: no cardiovascular defect recorded

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 MYH7: BED file

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Selected References

  1. Budde, B. S., Binner, P., Waldmüller, S., Höhne, W., Blankenfeldt, W., Hassfeld, S., … 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. 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., … Klaassen, S. (2011). Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly. Circulation: Cardiovascular Genetics, 4(1), 43–50. 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 aMYH7mutation. American Journal of Medical Genetics Part A, 161(12), 3187–3190. DOI:10.1002/ajmg.a.36182 PMID:23956225