ClinGen Dosage Sensitivity Curation Page
PKD2
- Curation Status: Complete
- id: ISCA-23191
- Date last evaluated: 2012-07-06
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about PKD2 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/5311
- OMIM: https://omim.org/entry/173910
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PKD2%5Bgenesymbol%5D
- ClinGen Haploinsufficiency Score: 3
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.995
Select assembly:
(NC_000004.11)
(NC_000004.12)
- Haploinsufficiency score: 3
- Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
- Haploinsufficiency Phenotype: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2
| 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