Imprinting disorders
Gene: SGCE
Myoclonus-dystonia is a pleiotropic neuropsychiatric disorder with variable expressivity, penetrance (largely determined by parental origin) and age of onset. Affected individuals typically have a pathogenic variant on the paternal allele, however about 5% of affected individuals were found to have a pathogenic variant on the maternal allele. Pathogenic mechanisms may not be entirely clear.
A study of population prevalence of deleterious SGCE variants found these to be common in the population (LeDoux 2020). Authors urged caution when asserting pathogenicity without co-segregation analyses and expert neurological examination of phenotypes within pedigrees. Mild phenotypic variants may be underdiagnosed.Created: 17 Sep 2021, 5:06 a.m. | Last Modified: 17 Sep 2021, 5:06 a.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
myoclonus; dystonia
Publications
Phenotypes for gene: SGCE were changed from Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia to Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia; Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044
Gene: sgce has been classified as Green List (High Evidence).
Publications for gene: SGCE were set to 25209853; 23237735; 23365103; 30794780; 11528394; 12325078; 17200151
Publications for gene: SGCE were set to PMID: 25209853; 23237735; 23365103; http://igc.otago.ac.nz/home.html; 30794780
gene: SGCE was added gene: SGCE was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: SGCE were set to PMID: 25209853; 23237735; 23365103; http://igc.otago.ac.nz/home.html; 30794780 Phenotypes for gene: SGCE were set to Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia