ClinGen Dosage Sensitivity Curation Page

NIPBL

  • Curation Status: Complete

Location Information

Select assembly: (NC_000005.9) (NC_000005.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
15146185 Loss of function mutations identified in multiple unrelated probands
15146186 Loss of function mutations identified in multiple unrelated probands
1531830 Loss of function mutations identified in multiple unrelated probands

Haploinsufficiency phenotype comments:

Loss of function known to cause Cornelia de Lange. Described in GeneReviews

  • Triplosensitivity score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for gain of function phenotype
PubMed ID Description
21211577 Triplosensitivity proposed but firm evidence lacking
19052029 Gain of NIPBL copy number predicted to cause a phenotype involving the same physiologic systems affected in Cornelia de Lange