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  3. SGCE
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Early onset dystonia

Gene: SGCE

Green List (high evidence)
SGCE (sarcoglycan epsilon)
EnsemblGeneIds (GRCh38): ENSG00000127990
EnsemblGeneIds (GRCh37): ENSG00000127990
OMIM: 604149, Gene2Phenotype
SGCE is in 6 panels

3 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Comment 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

Created: 15 Dec 2016, 11:10 a.m.

Panel version: 1.1

Ellen McDonagh (Genomics England Curator)

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.
Created: 10 Jun 2016, 7:29 a.m.

Panel version: 0.105

Huw Morris (UCL)

Green List (high evidence)

Autosomal dominant with maternal imprinting
Created: 3 Jun 2016, 10:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
Myoclonus dystonia syndrome

Created: 3 Jun 2016, 10:27 p.m.

Panel version: 0.40

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Myoclonus-Dystonia
  • maternally imprinted Dystonia-11, myoclonic, 159900
  • Myoclonus dystonia syndrome
OMIM
604149
Clinvar variants
Variants in SGCE
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SGCE were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/;11528394; 12325078

17 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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.

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

10 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SGCE were set to Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome

10 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 May 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for SGCE were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/

27 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SGCE was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SGCE was added to Early onset dystoniapanel. Sources: Expert

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

SGCE was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

SGCE was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SGCE was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SGCE was added to Early onset dystoniapanel. Sources: UKGTN