NIPBL NIPBL cohesin loading factor

Gene info


IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2

Previous symbol


External ID

HGNC: 28862
Entrez Gene: 25836
Ensembl: ENSG00000164190
UCSC: uc003jkl.5
OMIM: 608667
UniProtKB: Q6KC79

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Heterozygous knockout mouse has CHD, morpholino knockdown in zebrafish leads to CHD


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 NIPBL: BED file

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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 ofNIPBLmutation. Clinical Genetics, 72(2), 98–108. 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. 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. 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. DOI:10.1002/ajmg.a.35582 PMID:22965847