ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

While deletions in the 3' end of EPCAM (typically exons 8 and 9 as well as intergenic material between EPCAM and MSH2) are associated with Lynch Syndrome cancers, this is due to epigenetic regulation of nearby MSH2 and the methylation status of MSH2 promoter. There is little to no evidence that EPCAM haploinsufficiency by deletions or truncations in the 5' end of EPCAM and otherwise not affecting MSH2 have any resulting impact on Lynch Syndrome cancers or other cancer phenotypes. Thus, EPCAM is not itself a dosage sensitive gene. In addition, biallelic (autosomal recessive) mutations in EPCAM are associated with DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (OMIM:613217).

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