{ "url": "https://dantelabs.com/et/genes/sgcg", "gene": { "slug": "sgcg", "symbol": "SGCG", "name": "sarcoglycan gamma", "hgnc": "HGNC:10809", "summary": null, "location": "13q12.12", "locusType": "gene with protein product", "aliases": [ "SCARMD2", "DAGA4", "SCG3", "DMDA", "TYPE", "A4", "MGC130048" ], "previousSymbols": [ "DMDA1", "MAM", "LGMD2C" ], "ensemblId": "ENSG00000102683", "entrezId": 6445, "omim": [ "608896" ], "uniprot": [ "Q13326" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "13", "start": 23180979, "end": 23325162, "strand": "+", "ensemblTranscript": "ENST00000218867.4", "refseqTranscript": "NM_000231.3", "ensemblProtein": "ENSP00000218867.3", "refseqProtein": "NP_000222.2", "exons": [ { "start": 23180979, "end": 23181075 }, { "start": 23203695, "end": 23203889 }, { "start": 23234611, "end": 23234712 }, { "start": 23250630, "end": 23250717 }, { "start": 23279359, "end": 23279478 }, { "start": 23295415, "end": 23295487 }, { "start": 23320637, "end": 23320760 }, { "start": 23324368, "end": 23325162 } ], "cds": { "start": 23203695, "end": 23324541 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "13", "start": 23755091, "end": 23899304, "strand": "+" }, "neighbourhood": { "release": "116", "start": 22753071, "end": 23753070, "genes": [ { "symbol": "SACS", "ensemblId": "ENSG00000151835", "biotype": "protein_coding", "start": 23288689, "end": 23433763, "strand": "-", "slug": "sacs" }, { "symbol": "TNFRSF19", "ensemblId": "ENSG00000127863", "biotype": "protein_coding", "start": 23570194, "end": 23676105, "strand": "+", "slug": "tnfrsf19" }, { "symbol": "MIPEP", "ensemblId": "ENSG00000027001", "biotype": "protein_coding", "start": 23730000, "end": 23889448, "strand": "-", "slug": "mipep" } ], "truncated": false }, "reports": [ { "slug": "dilated-cardiomyopathy", "name": "Dilatativne kardiomüopaatia", "diseases": [ { "mondoId": "MONDO:0005021", "name": "Dilatativne kardiomüopaatia", "genes": 50, "inheritance": null, "description": "Vasaku vatsakese laienemine ja nõrgenemine, mida ei seleta koronaararterite ega klapihaigus; pärilikud vormid on seotud geenidega TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN ja paljude teiste geenidega ning hõlmavad Barthi sündroomi ja Emery-Dreifussi lihasdüstroofiaid.", "management": "Geneetilise põhjuse teadmine toetab südame varajasemat jälgimist ja sugulaste sõeluuringuid ning geenide puhul, millel on suur arütmiariski, nagu LMNA, FLNC ja RBM20, aitab see otsustada rütmi jälgimise ja implanteeritavate defibrillaatorite kasutamise üle.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/et/conditions/dilated-cardiomyopathy" }, { "slug": "limb-girdle-muscular-dystrophy", "name": "Vöölihaste lihasdüstroofia", "diseases": [ { "mondoId": "MONDO:0016971", "name": "Vöölihaste lihasdüstroofia", "genes": 33, "inheritance": null, "description": "Vöölihaste lihasdüstroofia on mitme alatüübi kogum, mille pärilikkuse mustrid on erinevad (ka diagnoosi kindlaksmääramise piisavus on erinev). Selle haigusega seotud variantide kandjad peaksid kindla diagnoosi saamiseks pöörduma lihas-skeleti haiguste spetsialisti poole.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/et/conditions/limb-girdle-muscular-dystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-macrophage-morphology", "name": "Abnormal macrophage morphology", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-macrophage-morphology" }, { "slug": "macroglossia", "name": "Abnormally large tongue", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/macroglossia" }, { "slug": "calf-muscle-pseudohypertrophy", "name": "Calf muscle pseudohypertrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/calf-muscle-pseudohypertrophy" }, { "slug": "upper-limb-muscle-weakness", "name": "Decreased arm strength", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/upper-limb-muscle-weakness" }, { "slug": "difficulty-running", "name": "Difficulty running", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/difficulty-running" }, { "slug": "difficulty-climbing-stairs", "name": "Difficulty walking up stairs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/difficulty-climbing-stairs" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "emg-myopathic-abnormalities", "name": "EMG: myopathic abnormalities", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities" }, { "slug": "emg-myotonic-discharges", "name": "EMG: myotonic discharges", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-myotonic-discharges" }, { "slug": "emg-myotonic-runs", "name": "EMG: myotonic runs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-myotonic-runs" }, { "slug": "emg-positive-sharp-waves", "name": "EMG: positive sharp waves", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-positive-sharp-waves" }, { "slug": "lumbar-hyperlordosis", "name": "Excessive inward curvature of lower spine", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lumbar-hyperlordosis" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "frequent-falls", "name": "Frequent falls", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/frequent-falls" }, { "slug": "gowers-sign", "name": "Gowers sign", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gowers-sign" }, { "slug": "increased-endomysial-connective-tissue", "name": "Increased endomysial connective tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-endomysial-connective-tissue" }, { "slug": "calf-muscle-hypertrophy", "name": "Increased size of calf muscles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/calf-muscle-hypertrophy" }, { "slug": "increased-variability-in-muscle-fiber-diameter", "name": "Increased variability in muscle fiber diameter", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter" }, { "slug": "left-ventricular-systolic-dysfunction", "name": "Left ventricular systolic dysfunction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "muscle-fiber-necrosis", "name": "Muscle fiber necrosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-fiber-necrosis" }, { "slug": "muscle-fiber-splitting", "name": "Muscle fiber splitting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/muscle-fiber-splitting" }, { "slug": "muscular-dystrophy", "name": "Muscular dystrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscular-dystrophy" }, { "slug": "neck-flexor-weakness", "name": "Neck flexion weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neck-flexor-weakness" }, { "slug": "pneumonia", "name": "Pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pneumonia" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "right-ventricular-hypertrophy", "name": "Right ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/right-ventricular-hypertrophy" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "achilles-tendon-contracture", "name": "Shortening of the achilles tendon", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/achilles-tendon-contracture" }, { "slug": "restrictive-ventilatory-defect", "name": "Stiff lung or chest wall causing decreased lung volume", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect" }, { "slug": "tip-toe-gait", "name": "Toe walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tip-toe-gait" }, { "slug": "type-1-muscle-fiber-predominance", "name": "Type 1 muscle fiber predominance", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance" }, { "slug": "waddling-gait", "name": "Waddling gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/waddling-gait" }, { "slug": "broad-based-gait", "name": "Wide based walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-based-gait" }, { "slug": "scapular-winging", "name": "Winged shoulder blade", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scapular-winging" } ], "related": [ { "slug": "fktn", "symbol": "FKTN", "name": "fukutin", "shared": 2, "url": "https://dantelabs.com/et/genes/fktn" }, { "slug": "lmna", "symbol": "LMNA", "name": "lamin A/C", "shared": 2, "url": "https://dantelabs.com/et/genes/lmna" }, { "slug": "sgca", "symbol": "SGCA", "name": "sarcoglycan alpha", "shared": 2, "url": "https://dantelabs.com/et/genes/sgca" }, { "slug": "sgcb", "symbol": "SGCB", "name": "sarcoglycan beta", "shared": 2, "url": "https://dantelabs.com/et/genes/sgcb" }, { "slug": "sgcd", "symbol": "SGCD", "name": "sarcoglycan delta", "shared": 2, "url": "https://dantelabs.com/et/genes/sgcd" }, { "slug": "tcap", "symbol": "TCAP", "name": "titin-cap", "shared": 2, "url": "https://dantelabs.com/et/genes/tcap" }, { "slug": "ttn", "symbol": "TTN", "name": "titin", "shared": 2, "url": "https://dantelabs.com/et/genes/ttn" }, { "slug": "abcc9", "symbol": "ABCC9", "name": "ATP binding cassette subfamily C member 9", "shared": 1, "url": "https://dantelabs.com/et/genes/abcc9" }, { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 1, "url": "https://dantelabs.com/et/genes/actc1" }, { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/et/genes/ano5" }, { "slug": "bag3", "symbol": "BAG3", "name": "BAG cochaperone 3", "shared": 1, "url": "https://dantelabs.com/et/genes/bag3" }, { "slug": "bag5", "symbol": "BAG5", "name": "BAG cochaperone 5", "shared": 1, "url": "https://dantelabs.com/et/genes/bag5" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 10, "url": "https://dantelabs.com/genes/sgcg/variants", "items": [ { "slug": "c-195to195plus3del", "name": "c.195_195+3del", "commonName": null, "symbol": "SGCG", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 23203888, "grch37Position": 23778027, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/sgcg/variants/c-195to195plus3del" }, { "slug": "c-579-2a-g", "name": "c.579-2A>G", "commonName": null, "symbol": "SGCG", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 23320635, "grch37Position": 23894774, "part": { "kind": "intron", "number": 6 }, "url": "https://dantelabs.com/genes/sgcg/variants/c-579-2a-g" }, { "slug": "c-703-1g-c", "name": "c.703-1G>C", "commonName": null, "symbol": "SGCG", "classification": "likely-pathogenic", "stars": 3, "hgvsC": null, "position": 23324367, "grch37Position": 23898506, "part": { "kind": "intron", "number": 7 }, "url": "https://dantelabs.com/genes/sgcg/variants/c-703-1g-c" }, { "slug": "c283y", "name": "C283Y", "commonName": null, "symbol": "SGCG", "classification": "pathogenic", "stars": 3, "hgvsC": "c.848G>A", "position": 23324513, "grch37Position": 23898652, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/sgcg/variants/c283y" }, { "slug": "e176x", "name": "E176X", "commonName": null, "symbol": "SGCG", "classification": "pathogenic", "stars": 3, "hgvsC": "c.526G>T", "position": 23295435, "grch37Position": 23869574, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/sgcg/variants/e176x" }, { "slug": "e263k", "name": "E263K", "commonName": null, "symbol": "SGCG", "classification": "pathogenic", "stars": 3, "hgvsC": "c.787G>A", "position": 23324452, "grch37Position": 23898591, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/sgcg/variants/e263k" }, { "slug": "f175lfs20", "name": "F175Lfs*20", "commonName": null, "symbol": "SGCG", "classification": "pathogenic", "stars": 3, "hgvsC": "c.525del", "position": 23295429, "grch37Position": 23869568, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/sgcg/variants/f175lfs20" }, { "slug": "g30wfs30", "name": "G30Wfs*30", "commonName": null, "symbol": "SGCG", "classification": "pathogenic", "stars": 3, "hgvsC": "c.87dup", "position": 23203780, "grch37Position": 23777919, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/sgcg/variants/g30wfs30" }, { "slug": "l53p", "name": "L53P", "commonName": null, "symbol": "SGCG", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.158T>C", "position": 23203852, "grch37Position": 23777991, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/sgcg/variants/l53p" }, { "slug": "r34p", "name": "R34P", "commonName": null, "symbol": "SGCG", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.101G>C", "position": 23203795, "grch37Position": 23777934, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/sgcg/variants/r34p" } ] } }