Dystonia - isolated/combined

Gene: SGCE

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia-11, myoclonic, MIM# 159900
  • MONDO:0008044
OMIM
604149
Clinvar variants
Variants in SGCE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sgce has been classified as Green List (High Evidence).

29 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SGCE were set to

27 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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