ClinGen Dosage Sensitivity Curation Page

INS

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Heterozygous missense mutations in INS can lead to permanent neonatal diabetes mellitus (PNDM) other forms of diabetes, but these are thought to cause disease through a dominant-negative mechanism. Loss of function mutations, including deletions, cause PNDM when inherited in a recessive manner (Stoy et al, 2010, PMID: 20938745).

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