MYH6 myosin heavy chain 6

Gene info

Disease info

Animal model

Variant info

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
3. ClinVar review status for the variant is criteria provided

Selected References

1. Ching, Y.-H., Ghosh, T. K., Cross, S. J., Packham, E. A., Honeyman, L., Loughna, S., Robinson, T. E., Dearlove, A. M., Ribas, G., Bonser, A. J., Thomas, N. R., Scotter, A. J., Caves, L. S. D., Tyrrell, G. P., Newbury-Ecob, R. A., Munnich, A., Bonnet, D., & Brook, J. D. (2005). Mutation in myosin heavy chain 6 causes atrial septal defect. Nature Genetics, 37(4), 423–428. https://doi.org/10.1038/ng1526 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. https://doi.org/10.1080/14737159.2017.1300062 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., Kirk, E. P., Fatkin, D., Feneley, M. P., Harvey, R. P., Armour, J. A. L., & 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. https://doi.org/10.1093/hmg/ddq315 DOI:10.1093/hmg/ddq315 PMID:20656787