ClinGen Dosage Sensitivity Curation Page

MEST

  • 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:

PMID:22211632 Eggermann et al. (2012) describe a patient with a 3.7 Mb de novo paternally derived deletion involving MEST (and 52 additional genes) with features similar to Silver-Russell syndrome. In ~10% of SRS cases, the patients have upd(7)mat. PMID:15691366 Kim et al. (2005) tested methylation patterns at MEST and GRB10 on chr7 in 15 patients with SRS. They identified one patient with maternal UPD at both loci.

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