SGCG Chromosome 13
Sarcoglycan gamma
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What This Gene Does
This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]
Associated Conditions (8)
Autosomal recessive limb-girdle muscular dystrophy type 2C
SGCG-related disorder
Sarcoglycanopathy
Inborn genetic diseases
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy
Abnormality of the musculature
SGCG-related congenital myopathy
Key Variants
RS114160429
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, SGCG-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS1165407566
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS1174403532
Conflicting classifications of pathogenicity
Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C, Sarcoglycanopathy
Health Risk
RS1254791358
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS1349925286
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS1359141230
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS1394135402
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS140810408
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS142409090
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS143009120
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2C, Inborn genetic diseases
Health Risk
RS144143366
Conflicting classifications of pathogenicity
Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C, Sarcoglycanopathy
Health Risk
RS144277094
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
All Variants (112)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1474297447 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1484553312 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555240119 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1881865054 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS200502077 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2500525030 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2541900264 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS547818652 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy, SGCG-related disorder |
| RS754415994 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS886042757 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS886043860 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS913248720 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |