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OMIA:002912-9031 : Ciliopathy, CPLANE1-related in Gallus gallus (chicken)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 614571 (gene) , 614615 (trait) , 277170 (trait)

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: no

Species-specific description: Asadollahi et al. (2018) and Yusifov et al. (2024) used in ovo RNAi-mediated gene silencing to assess Cplane1 function in chicken embryos as models of human disease. Asadollahi et al. (2018) reported facial midline widening in chicken embryos after silencing of Cplane1 (also called C5orf42) and Yusifov et al. (2024) noted "defects in dorsal root ganglia, which vary in size and fail to localize symmetrically along the spinal cord." 

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CPLANE1 ciliogenesis and planar polarity effector 1 Gallus gallus Z NC_052572.1 (12083396..12019506) CPLANE1 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002912-9031: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Yusifov, E., Schaettin, M., Dumoulin, A., Bachmann-Gagescu, R., Stoeckli, E.T. :
The primary cilium gene CPLANE1 is required for peripheral nervous system development. Dev Biol 519:S0012-1606(24)00280-X:106-121, 2024. Pubmed reference: 39694173. DOI: 10.1016/j.ydbio.2024.12.008.
2018 Asadollahi, R., Strauss, J.E., Zenker, M., Beuing, O., Edvardson, S., Elpeleg, O., Strom, T.M., Joset, P., Niedrist, D., Otte, C., Oneda, B., Boonsawat, P., Azzarello-Burri, S., Bartholdi, D., Papik, M., Zweier, M., Haas, C., Ekici, A.B., Baumer, A., Boltshauser, E., Steindl, K., Nothnagel, M., Schinzel, A., Stoeckli, E.T., Rauch, A. :
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. Eur J Hum Genet 26:197-209, 2018. Pubmed reference: 29321670. DOI: 10.1038/s41431-017-0019-9.

Edit History


  • Created by Imke Tammen2 on 31 Dec 2024
  • Changed by Imke Tammen2 on 31 Dec 2024