ClinGen Dosage Sensitivity Curation Page

H19

  • 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:

PMID 19209620 - Schonherr (2008): 2 Russell-Silver patients with in-frame 3 bp deletions and one Russell-Silver patient with a 39 bp duplication were reported. It is unclear if these small sequence changes are related to the patients phenotypes. Not enough evidence to count toward the loss of function score.

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

Triplosensitivity phenotype comment:

http://www.ncbi.nlm.nih.gov/books/NBK1324, http://www.ncbi.nlm.nih.gov/books/NBK1394. Maternally derived duplications including 11p15.5 result in Russell-Silver syndrome. Paternally derived duplications including 11p15.5 result in Beckwith-Wiedemann syndrome.