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
20818502 Yang 2010: nonsense mutation (p.Q49X) found in family with atrial fibrillation; not found in 200 controls or unaffected family members.

Haploinsufficiency phenotype comments:

PMID: 15117819 - Report includes 3 probands with large deletion encompassing GJA5 and other genes. Clinical features include heart defects and variable other phenotypes. Inheritance is unknown for one subject, de novo for one, and inherited from normal parent in one. PMID: 18784092 - Characterization of 1q21.1 microdeletion syndrome. These two articles show evidence for the region, but not the individual gene; therefore they are not counted in the haploinsufficiency score.

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