ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
20503313 Romanelli (2010) reported 8 mutations - one was a de novo frameshift mutation and 4 others were maternally inherited loss-of-function mutations in patients with BWS. In addition, this manuscript provides a review of other mutations described in previous studies.

Haploinsufficiency phenotype comments:

Maternally inherited loss of function mutations are a cause of Beckwith-Wiedemann syndrome.

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