SMG9 SMG9 nonsense mediated mRNA decay factor

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

Selected References

1. Shaheen, R., Anazi, S., Ben-Omran, T., Seidahmed, M. Z., Caddle, L. B., Palmer, K., Ali, R., Alshidi, T., Hagos, S., Goodwin, L., Hashem, M., Wakil, S. M., Abouelhoda, M., Colak, D., Murray, S. A., & Alkuraya, F. S. (2016). Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. The American Journal of Human Genetics, 98(4), 643–652. https://doi.org/10.1016/j.ajhg.2016.02.010 DOI:10.1016/j.ajhg.2016.02.010 PMID:27018474
2. Lecoquierre, F., Bonnevalle, A., Chadie, A., Gayet, C., Dumant‐Forest, C., Renaux‐Petel, M., Leca, J., Hazelzet, T., Brasseur‐Daudruy, M., Louillet, F., Muraine, M., Coutant, S., Quenez, O., Boland, A., Deleuze, J., Frebourg, T., Goldenberg, A., Saugier‐Veber, P., Guerrot, A., & Nicolas, G. (2019). Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder. American Journal of Medical Genetics Part A, 179(11), 2257–2262. Portico. https://doi.org/10.1002/ajmg.a.61317 DOI:10.1002/ajmg.a.61317 PMID:31390136