CIROP ciliated left-right organizer metallopeptidase

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. Szenker-Ravi, E., Ott, T., Khatoo, M., Moreau de Bellaing, A., Goh, W. X., Chong, Y. L., Beckers, A., Kannesan, D., Louvel, G., Anujan, P., Ravi, V., Bonnard, C., Moutton, S., Schoen, P., Fradin, M., Colin, E., Megarbane, A., Daou, L., Chehab, G., … Reversade, B. (2021). Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates. Nature Genetics, 54(1), 62–72. https://doi.org/10.1038/s41588-021-00970-4 DOI:10.1038/s41588-021-00970-4 PMID:34903892