ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)
Evidence for haploinsufficiency phenotype
PubMed ID Description
18205193 A Mutation In Brief by Grunewald et al. provides a review of current (as of 2008) SGCE mutations associated with Myoclonus-Dystonia (M-D) as well as a report of three novel SGCE deletions.

Haploinsufficiency phenotype comments:

Heterozygous exonic or whole gene deletions and sequence-level mutations of SGCE mutations are associated with Myoclonus-Dystonia (M-D). From GeneReviews: "In general, maternally derived SGCE alleles are not expressed and paternally derived SGCE alleles are expressed. Thus, almost all children who inherit an SGCE mutation from their father develop symptoms, whereas close to 95% of children who inherit an SGCE mutation from their mother do not."

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