ClinGen Dosage Sensitivity Curation Page

NR2F2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000015.9) (NC_000015.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

PMID:21172461 Nakamura et al. (2011) propose NR2F2 as a candidate gene for congenital heart defects based on a 5.8 Mb deletion detected in a patient and comparison mapping with previous reports of deletions of 15q26. All of the reported deletions contain multiple genes.

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