ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000004.11) (NC_000004.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
8650545 Mozichuki et al. (1996): Description of three distinct nonsense mutations segregating with polycystic kidney disease in three families.
9402976 Viribay et al. (1997): Seven additional mutations are described segregating with disease amongst families - three nonsense and four frameshift deletions.

Haploinsufficiency phenotype comments:

See GeneReviews and OMIM entries for a detailed description of polycystic kidney disease, and additional information regarding the mutational spectrum of PKD2.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity