Dystonia - isolated/combined
Gene: SGCE
Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal muscles. Dystonia, usually torticollis or writer's cramp, is observed in most patients, but occasionally can be the only symptom of the disorder. Onset of the disorder is usually in the first or second decade.
More than 10 families reported. Note gene is imprinted, penetrance was complete in paternal transmissions and null in maternal transmissions.Created: 29 Apr 2021, 8:23 a.m. | Last Modified: 29 Apr 2021, 8:23 a.m.
Panel Version: 0.52
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044
Publications
Gene: sgce has been classified as Green List (High Evidence).
Phenotypes for gene: SGCE were changed from maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome; Myoclonus-Dystonia to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044
Publications for gene: SGCE were set to
gene: SGCE was added gene: SGCE was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: SGCE were set to maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome; Myoclonus-Dystonia