MYBPC3 myosin binding protein C, cardiac
Gene info
Synonyms
MYBP-C, FHC
Previous symbol
CMH4
External ID
HGNC: 7551
Entrez Gene: 4607
Ensembl: ENSG00000134571
UCSC: uc058bdz.1
OMIM:
600958
UniProtKB:
Q14896
Disease info
Disease
None
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
- Patent ductus arteriosus
- Patent foramen ovale
Extra Cardiac Phenotype
poor feeding, respiratory distress, and cyanosis, poor circulation,
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 MYBPC3: BED file
Genome browser powered by igv.js
Selected References
- Wessels, M., & Willems, P. (2010). Genetic factors in non-syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. https://doi.org/10.1111/j.1399-0004.2010.01435.x DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191
- Wessels, M. W., Herkert, J. C., Frohn-Mulder, I. M., Dalinghaus, M., van den Wijngaard, A., de Krijger, R. R., Michels, M., de Coo, I. F., Hoedemaekers, Y. M., & Dooijes, D. (2014). Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. European Journal of Human Genetics, 23(7), 922–928. https://doi.org/10.1038/ejhg.2014.211 DOI:10.1038/ejhg.2014.211 PMID:25335496
- Lekanne Deprez, R. H., Muurling-Vlietman, J. J., Hruda, J., Baars, M. J. H., Wijnaendts, L. C. D., Stolte-Dijkstra, I., Alders, M., & van Hagen, J. M. (2006). Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. Journal of Medical Genetics, 43(10), 829–832. https://doi.org/10.1136/jmg.2005.040329 DOI:10.1136/jmg.2005.040329 PMID:16679492