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  2. Childhood onset dystonia, chorea or related movement disorder
  3. SGCE
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Childhood onset dystonia, chorea or related movement disorder

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

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

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

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to SGCE. Mode of inheritance for gene SGCE was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Added phenotypes Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome for gene: SGCE Publications for gene SGCE were changed from to 20301334; 11528394; 12325078

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SGCE was added gene: SGCE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SGCE was set to