Genomics England
GMS Panels
Panels
Genes and Entities

SGCE

sarcoglycan epsilon
OMIM: 604149
PanelMode of inheritanceDetails
2 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 3.19
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Dystonia-11, myoclonic, OMIM:159900
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Myoclonus-Dystonia, maternally imprinted Dystonia-11, myoclonic, 159900, Myoclonus dystonia syndrome