SGCE Chromosome 7

Sarcoglycan epsilon
144 variants 144 Health Risk

Upload your DNA to see your personal genotypes for variants in SGCE.

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
RS1554353106 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554355416 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554358727 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1562805960 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1562806242 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1562806273 Health Risk Pathogenic —
RS1562811980 Health Risk Pathogenic —
RS1562812136 Health Risk Pathogenic —
RS1562812370 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584531843 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584546131 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584546238 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584637958 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584638555 Health Risk Pathogenic —
RS1584663290 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584663425 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584663596 Health Risk Pathogenic —
RS1584692239 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1798791092 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1799563986 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1799588164 Health Risk Pathogenic —
RS1803142505 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11, Myoclonic dystonia 11
RS1804394258 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1808615750 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116568066 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116693521 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116694543 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116694965 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116695873 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116722242 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116722345 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116722561 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116722961 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116723386 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116723835 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116724268 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116724997 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116880447 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116880537 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116880618 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116881189 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116881481 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116881558 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116882157 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116882526 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116917821 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116918021 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116958989 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116959244 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116972508 Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
« Prev 1 2 3 Next »
Sign Up to Analyze Your DNA Log In