BCOR BCL6 corepressor

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. Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., Hadley, D. W., Tifft, C., Zhang, L., Wilkie, A. O. M., van der Smagt, J. J., Gorlin, R. J., Burgess, S. M., Bardwell, V. J., Black, G. C. M., & Biesecker, L. G. (2004). Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nature Genetics, 36(4), 411–416. https://doi.org/10.1038/ng1321 DOI:10.1038/ng1321 PMID:15004558
2. Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., Kohara, H., Hirano, Y., Mizuno, S., Torii, C., Kosaki, K., Manouvrier, S., Boute, O., Perveen, R., Law, C., Moore, A., Fitzpatrick, D., Lemke, J., Fellmann, F., … Black, G. (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics, 17(10), 1325–1335. https://doi.org/10.1038/ejhg.2009.52 DOI:10.1038/ejhg.2009.52 PMID:19367324