MYH6 myosin heavy chain 6

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 7576
Entrez Gene: 4624
Ensembl: ENSG00000197616
UCSC: uc001wjv.3
OMIM: 160710
UniProtKB: P13533

Disease info

CHD Phenotype

  • Aortic stenosis
  • Atrial septal defect
  • Patent foramen ovale
  • Transposition of the great arteries
  • Ventricular septal defect
  • Tricuspid atresia

Extra Cardiac Phenotype

0

Incomplete penetrance

Yes

Variable expressivity

Yes

Animal model

Mouse study

Mice heterozygous or homozygous for a null allele or single point mutation have CHD

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 MYH6: BED file

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Selected References

  1. Ching, Y.-H., Ghosh, T. K., Cross, S. J., Packham, E. A., Honeyman, L., Loughna, S., … Brook, J. D. (2005). Mutation in myosin heavy chain 6 causes atrial septal defect. Nature Genetics, 37(4), 423–428. DOI:10.1038/ng1526 PMID:15735645
  2. Li, Y.-J., & Yang, Y.-Q. (2017). An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations. Expert Review of Molecular Diagnostics, 17(4), 393–401. DOI:10.1080/14737159.2017.1300062 PMID:28274167
  3. Granados-Riveron, J. T., Ghosh, T. K., Pope, M., Bu’Lock, F., Thornborough, C., Eason, J., … David Brook, J. (2010). α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Human Molecular Genetics, 19(20), 4007–4016. DOI:10.1093/hmg/ddq315 PMID:20656787