Imprinting disorders

Gene: SGCE

Green List (high evidence)

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

• 11528394
• 12325078
• 17200151
• 16227522
• 20301587
• 33200041