Dystonia - childhood onset

Gene: SGCE

Green List (high evidence)

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

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
Phenotypes
  • Myoclonus dystonia syndrome
  • Myoclonus-Dystonia
  • maternally imprinted Dystonia-11, myoclonic, 159900
OMIM
604149
Clinvar variants
Variants in SGCE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: SGCE was added gene: SGCE was added to Dystonia - childhood onset. Sources: Expert Review Green 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 20301334; 12325078; 11528394 Phenotypes for gene: SGCE were set to Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900