Parkinson Disease and Complex Parkinsonism
Gene: SGCEMonoallelic mutations maternally imprinted cause myoclonus dystonia (DYT-11)(alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles, plus Dystonia, usually torticollis and/or writer's cramp, may occasionally be the only symptom of the disease plus some psychiatric features). PMID: 11528394 (6 families with dyt-11), 12325078 (nine families with dyt-11 plus plus writers cramp, cervical dystonia and myoclonus of the neck) and many many more publication. Consider moving this gene to the dystonia panel?Created: 14 Dec 2016, 5:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
myoclonus dystonia (DYT-11)
Publications
Comment on list classification: Green on the dystonia panel, therefore demoted on this panel as is a dystonia gene.Created: 8 Dec 2016, 3:26 p.m.
Comment on list classification: Green on the Early onset dystonia gene panel, unsure whether this should be included on the Parkinson's panel.Created: 2 Nov 2016, 1:50 p.m.
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 11:25 a.m.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Red List (Low Evidence).
Phenotypes for SGCE were set to Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome
Publications for SGCE were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/;11528394;12325078
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
SGCE was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert list
SGCE was created by ellenmcdonagh