ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: SENGERS SYNDROME

Haploinsufficiency phenotype comments:

Biallelic loss of function mutations in AGK are associated with Sengers syndrome, an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. See PMIDs: 25208612, 23266196, 22284826. There is also one report of three siblings with non-syndromic congenital cataracts with a homozygous splice site mutation, PMID:22415731.

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