ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)

Haploinsufficiency phenotype comments:

MEN1 sequence level variants (nonsense, frameshift, splice site, and exonic deletions) as well as non-focal MEN1 whole gene deletions are associated with the development of Multiple Endocrine Neoplasia type 1 (MEN1) syndrome (PMID: 9510467, 15105049, and 21763627 and Genereviews). MEN1 syndrome is characterized by an increased susceptibility to develop endocrine tumors (i.e., parathryoid, pituitary, and well-differentiated endocrine tumors of the gastro-entero-pancreatic [GEP] tract), as well as non-endocrine tumors (e.g. facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, and leiomyomas). The penetrance for the development of clinical features associated with MEN1 mutations is 50% by age 20 and 95% by age 40.

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

Triplosensitivity phenotype comment:

At this time there is no evidence to suggest triplosensitivity.