DOCK6 dedicator of cytokinesis 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 or Likely Pathogenic
3. ClinVar review status for the variant is criteria provided

Download annotation file for DOCK6: BED file

Selected References

1. Hassed, S., Li, S., Mulvihill, J., Aston, C., & Palmer, S. (2017). Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. American Journal of Medical Genetics Part A, 173(3), 790–800. Portico. https://doi.org/10.1002/ajmg.a.37889 DOI:10.1002/ajmg.a.37889 PMID:28160419
2. Bramswig, N. C., Lüdecke, H.-J., Alanay, Y., Albrecht, B., Barthelmie, A., Boduroglu, K., Braunholz, D., Caliebe, A., Chrzanowska, K. H., Czeschik, J. C., Endele, S., Graf, E., Guillén-Navarro, E., Kiper, P. Ö. S., López-González, V., Parenti, I., Pozojevic, J., Utine, G. E., Wieland, T., … Wieczorek, D. (2015). Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes. Human Genetics, 134(6), 553–568. https://doi.org/10.1007/s00439-015-1535-8 DOI:10.1007/s00439-015-1535-8 PMID:25724810