SGCE Chromosome 7

Sarcoglycan epsilon
144 variants 144 Health Risk

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What This Gene Does
This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
Associated Conditions (5)
Myoclonic dystonia 11
Inborn genetic diseases
Movement disorder
SGCE-related disorder
Myoclonus-dystonia syndrome
Key Variants
RS1295669429
Conflicting classifications of pathogenicity
Myoclonic dystonia 11, Myoclonic dystonia 11
Health Risk
RS148979783
Conflicting classifications of pathogenicity
Myoclonic dystonia 11, Myoclonic dystonia 11
Health Risk
RS1554343985
Conflicting classifications of pathogenicity
Inborn genetic diseases, Myoclonic dystonia 11, Inborn genetic diseases
Health Risk
RS1554358639
Conflicting classifications of pathogenicity
Myoclonic dystonia 11, Myoclonic dystonia 11
Health Risk
RS17851923
Conflicting classifications of pathogenicity
Myoclonic dystonia 11, Myoclonic dystonia 11
Health Risk
RS199787155
Conflicting classifications of pathogenicity
Myoclonic dystonia 11, Inborn genetic diseases, Myoclonic dystonia 11
Health Risk
RS201378067
Conflicting classifications of pathogenicity
Myoclonic dystonia 11, Myoclonic dystonia 11
Health Risk
RS2485134154
Conflicting classifications of pathogenicity
Myoclonic dystonia 11, Myoclonic dystonia 11
Health Risk
RS370609227
Conflicting classifications of pathogenicity
Myoclonic dystonia 11, Inborn genetic diseases, Myoclonic dystonia 11
Health Risk
RS374697567
Conflicting classifications of pathogenicity
Myoclonic dystonia 11, Inborn genetic diseases, Myoclonic dystonia 11
Health Risk
RS375899729
Conflicting classifications of pathogenicity
Myoclonic dystonia 11, Movement disorder, Inborn genetic diseases
Health Risk
RS548306335
Conflicting classifications of pathogenicity
Myoclonic dystonia 11, SGCE-related disorder, Myoclonic dystonia 11
Health Risk
All Variants (144)
RSID Category Clinical Significance Conditions
RS2116972578 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116972912 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2117137466 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484923103 Health Risk Pathogenic Myoclonic dystonia 11, Inborn genetic diseases, Myoclonic dystonia 11
RS2484932535 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484943705 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484943954 Health Risk Pathogenic —
RS2484944161 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484944679 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484944771 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484945647 Health Risk Pathogenic —
RS2484946009 Health Risk Pathogenic —
RS2484972450 Health Risk Pathogenic —
RS2484972496 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484973224 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484973845 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484973932 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484974735 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2485107870 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2485108635 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2485109812 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2485135007 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2485168334 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2485169498 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2485169694 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS375983969 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS398123812 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS765792098 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS766778442 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS794727794 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS863223284 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS863223285 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS886039595 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS886041675 Health Risk Pathogenic —
RS1057519246 Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1064794321 Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonus-dystonia syndrome, Myoclonic dystonia 11
RS1064797339 Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1376336723 Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554352952 Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1562811414 Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116695697 Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS372686312 Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS758213105 Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS863223283 Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
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