ClinGen Dosage Sensitivity Curation Page

GRB10

  • 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:

A 2011 report (PMID: 20933618) of a large de novo deletion encompassing the GRB10 locus in a patient with a complex phenotype including features of Beckwith-Wiedemann syndrome (BWS) [MIM 130650] suggests that loss of GRB10 is responsible for the observed BWS features in this patient, however focal deletions of GRB10 have not yet been reported in patient populations.

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

Triplosensitivity phenotype comment:

There have been 2 reports (PMID: 10987657, PMID: 10631135) of patients with cytogenetically visible duplications encompassing GRB10 and features of Silver-Russell syndrome (SRS) [MIM 180860], however these duplications were not focal and the role of GRB10 in SRS is still under debate (see PMIDs: 11112662, 11313740, 11527390, 17551927).