ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000010.10) (NC_000010.11)

Haploinsufficiency phenotype comments:

Deletions and loss of function mutations are associated with both familial and sporadic Hirschsprung disease. A complete review is available online in Gene Reviews. These types of mutations are NOT associated with MEN type 2A/B and Familial Medullary Thyroid cancer.

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