ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
18006672 Arora 2008: novel GJA8 mutation, Cx50D47N, segregated in family with congenital nuclear pulverulent cataracts; functional studies in HeLa cells and xenopus oocytes suggest this mutation acts as a loss-of-function mutation.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity