ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
14635101 Taylor et al (2003) screen 215 subjects referred to a clinic for phenotype consistent with autosomal dominant familial nonpolyposis colon cancer (Lynch Syndrome) and identify 6 MLH1 deletions (as well as 10 novel MLH1 mutations.)
15942939 van der Klift (2005) screened a large cohort of families with hereditary nonpolyposis colon cancer and identified 13 MLH1 deletions from 68 unrelated kindreds.

Haploinsufficiency phenotype comments:

Gene Reviews ( attributes ~50% of Lynch Syndrome to pathogenic mutations in MLH1

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

Triplosensitivity phenotype comment:

At this time (11-14-15) there is no evidence for triplosensitivity in this gene.