MMP21 matrix metallopeptidase 21

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. Guimier, A., Gabriel, G. C., Bajolle, F., Tsang, M., Liu, H., Noll, A., Schwartz, M., El Malti, R., Smith, L. D., Klena, N. T., Jimenez, G., Miller, N. A., Oufadem, M., Moreau de Bellaing, A., Yagi, H., Saunders, C. J., Baker, C. N., Di Filippo, S., Peterson, K. A., et al. (2015). MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. Nature Genetics, 47(11), 1260–1263. https://doi.org/10.1038/ng.3376 DOI:10.1038/ng.3376 PMID:26437028