Imprinting disorders

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

Anna Le Fevre (Victorian Clinical Genetics Services)

Green List (high evidence)

Myoclonus-dystonia is a pleiotropic neuropsychiatric disorder with variable expressivity, penetrance (largely determined by parental origin) and age of onset. Affected individuals typically have a pathogenic variant on the paternal allele, however about 5% of affected individuals were found to have a pathogenic variant on the maternal allele. Pathogenic mechanisms may not be entirely clear.

A study of population prevalence of deleterious SGCE variants found these to be common in the population (LeDoux 2020). Authors urged caution when asserting pathogenicity without co-segregation analyses and expert neurological examination of phenotypes within pedigrees. Mild phenotypic variants may be underdiagnosed.
Created: 17 Sep 2021, 5:06 a.m. | Last Modified: 17 Sep 2021, 5:06 a.m.
Panel Version: 0.3

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

Phenotypes
myoclonus; dystonia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Affected tissue: brain
  • Phenotype resulting from under expression: upper body myoclonus, dystonia
  • Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044
OMIM
604149
Clinvar variants
Variants in SGCE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SGCE were changed from Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia to Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia; Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044

17 Oct 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).

17 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SGCE were set to 25209853; 23237735; 23365103; 30794780; 11528394; 12325078; 17200151

17 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SGCE were set to PMID: 25209853; 23237735; 23365103; http://igc.otago.ac.nz/home.html; 30794780

6 Aug 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SGCE was added gene: SGCE was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: SGCE were set to PMID: 25209853; 23237735; 23365103; http://igc.otago.ac.nz/home.html; 30794780 Phenotypes for gene: SGCE were set to Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia