ClinGen Dosage Sensitivity Curation Page

AKT2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000019.9) (NC_000019.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Activating variants in AKT2 have been reported in individuals with hypoinsulinemic hypoglycemia and hemihypertrophy. Additionally, there has been a single report of a family with severe insulin resistance and diabetes mellitus and a missense variant in AKT2 (PMID:15166380). The authors posit that this missense variant results in loss of function, though this was unclear based on the evidence presented. More evidence is needed to determine whether loss of function variants in AKT2 result in a clinical phenotype.

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