ClinGen Dosage Sensitivity Curation Page

EN2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

PMID 9450876 and 21416596 report an association between deletions encompassing EN2 and clinical features of 7q terminal deletion syndrome, however focal deletions of EN2 have not yet been reported in clinical populations.

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