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
RS1295669429 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS148979783 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554343985 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Myoclonic dystonia 11, Inborn genetic diseases
RS1554358639 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS17851923 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS199787155 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Inborn genetic diseases, Myoclonic dystonia 11
RS201378067 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS2485134154 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS370609227 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Inborn genetic diseases, Myoclonic dystonia 11
RS374697567 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Inborn genetic diseases, Myoclonic dystonia 11
RS375899729 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Movement disorder, Inborn genetic diseases
RS548306335 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, SGCE-related disorder, Myoclonic dystonia 11
RS55853245 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS746585235 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Inborn genetic diseases, Myoclonic dystonia 11
RS747531940 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS752074255 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, SGCE-related disorder, Myoclonic dystonia 11
RS758030589 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS764696852 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS768233445 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS781270494 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Inborn genetic diseases, Myoclonic dystonia 11
RS986900959 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554345179 Health Risk Likely pathogenic —
RS1554345208 Health Risk Likely pathogenic —
RS1562853011 Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584546494 Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584700882 Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116724823 Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116880438 Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2484922818 Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2485107502 Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2485109639 Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2485167836 Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2485183122 Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS368043832 Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1057517990 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11, Myoclonic dystonia 11
RS1057518344 Health Risk Pathogenic —
RS1189469219 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS121908489 Health Risk Pathogenic Myoclonic dystonia 11, Inborn genetic diseases, SGCE-related disorder
RS121908490 Health Risk Pathogenic Myoclonic dystonia 11, SGCE-related disorder, Myoclonic dystonia 11
RS121908491 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS121908492 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1231727428 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1322313531 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554345052 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554345077 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554345124 Health Risk Pathogenic —
RS1554345162 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554345170 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554352819 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554352906 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
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