ClinGen Dosage Sensitivity Curation Page

PRKAG2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

To date only missense mutations have been described in the PRKAG2 gene and associated with Wolf-Parkinson-White syndrome, glycogen storage disease of heart and hypertrophic cardiomyopathy.

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