ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000009.11) (NC_000009.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
9618165 Vollrath et al. (1998): Describes mutations identified in four families with nail-patella syndrome and open-angle glaucoma, including two nonsense mutations and one frameshift leading to protein truncation.
9837817 McIntosh et al. (1998): Describes mutations identified in numerous families with nail-patella syndrome, with and without open-angle glaucoma, including six previously unreported nonsense mutations.
18414507 Bongers et al. (2008): Two whole-gene deletions and one deletion of exons 3-8 are described in three unrelated families with nail-patella syndrome. Deletions detected by MLPA.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity