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
Disease
CHD Phenotype
- Atrial septal defect
- Ebstein's 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.
- 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 MYH7: BED file
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Selected References
- 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
- 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
- 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. DOI:10.1002/ajmg.a.36182 PMID:23956225