NIPBL NIPBL cohesin loading 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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
3. ClinVar review status for the variant is criteria provided

Selected References

1. Selicorni, A., Russo, S., Gervasini, C., Castronovo, P., Milani, D., Cavalleri, F., Bentivegna, A., Masciadri, M., Domi, A., Divizia, M., Sforzini, C., Tarantino, E., Memo, L., Scarano, G., & Larizza, L. (2007). Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clinical Genetics, 72(2), 98–108. Portico. https://doi.org/10.1111/j.1399-0004.2007.00832.x DOI:10.1111/j.1399-0004.2007.00832.x PMID:17661813
2. Tonkin, E. T., Wang, T.-J., Lisgo, S., Bamshad, M. J., & Strachan, T. (2004). NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genetics, 36(6), 636–641. https://doi.org/10.1038/ng1363 DOI:10.1038/ng1363 PMID:15146185
3. Borck, G. (2004). NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. Journal of Medical Genetics, 41(12), e128–e128. https://doi.org/10.1136/jmg.2004.026666 DOI:10.1136/jmg.2004.026666 PMID:15591270
4. Chatfield, K. C., Schrier, S. A., Li, J., Clark, D., Kaur, M., Kline, A. D., Deardorff, M. A., Jackson, L. S., Goldmuntz, E., & Krantz, I. D. (2012). Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis. American Journal of Medical Genetics Part A, 158A(10), 2499–2505. Portico. https://doi.org/10.1002/ajmg.a.35582 DOI:10.1002/ajmg.a.35582 PMID:22965847