ClinGen Dosage Sensitivity Curation Page
SGCE
- Curation Status: Complete
- id: ISCA-5418
- Date last evaluated: 2012-05-17
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about SGCE at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/8910
- OMIM: https://omim.org/entry/604149
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SGCE%5Bgenesymbol%5D
- ClinGen Haploinsufficiency Score: 3
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.001
Select assembly:
(NC_000007.13)
(NC_000007.14)
- Haploinsufficiency score: 3
- Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
- Haploinsufficiency Phenotype: DYSTONIA 11, MYOCLONIC; DYT11
| 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