ClinGen Dosage Sensitivity Curation Page

IGF2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

http://www.ncbi.nlm.nih.gov/books/NBK1324

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

Triplosensitivity phenotype comment:

http://www.ncbi.nlm.nih.gov/books/NBK1394 While paternally derived duplications of 11p15.5 result in Beckwith-Wiedemann syndrome, no specific duplications of only IGF2 have been reported. It might be expected that a duplication of the IGF2 gene on the paternal allele may lead to overgrowth or BWS..