MYBPC3 myosin binding protein C3

Gene info

Synonyms

None

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

MGI: Homozygous knockout mouse has CHD

MGI ID

102844

Variant info

Clinvar

MYBPC3

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

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Selected References

  1. Wessels, M., & Willems, P. (2010). Genetic factors in non‐syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. Portico. https://doi.org/10.1111/j.1399-0004.2010.01435.x DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191
  2. 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
  3. 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