ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000010.10) (NC_000010.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
18304496 Kloeckener-Gruissem (2008): One family with juvenile cataract, microcornea, and renal glucosuria had a nonsense mutation that was predicted to cause a truncated protein.

Haploinsufficiency phenotype comments:

Juvenile cataract with microcornea and renal glucosuria

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