Early onset dystonia
Gene: SGCEComment from the Parkinson panel: Monoallelic 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: 15 Dec 2016, 11:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
myoclonus dystonia (DYT-11)
Publications
Comment on list classification: Multiple family reports in OMIM for Dystonia-11, myoclonic for different variants. Some reports suggesting incomplete penetrance.Created: 23 Aug 2016, 3:05 p.m.
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, 8:56 a.m.
Comment on list classification: Should be green due to information within the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual for dystonia.Created: 10 Jun 2016, 7:29 a.m.
Autosomal dominant with maternal imprintingCreated: 3 Jun 2016, 10:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Myoclonus dystonia syndrome
Publications for SGCE were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/;11528394; 12325078
17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for SGCE were set to Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome
Mode of inheritance for SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SGCE were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Mode of inheritance for SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SGCE was added to Early onset dystoniapanel. Sources: Expert
SGCE was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
SGCE was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
SGCE was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services
SGCE was added to Early onset dystoniapanel. Sources: UKGTN