{ "url": "https://dantelabs.com/et/genes/gys1", "gene": { "slug": "gys1", "symbol": "GYS1", "name": "glycogen synthase 1", "hgnc": "HGNC:4706", "summary": null, "location": "19q13.33", "locusType": "gene with protein product", "aliases": [ "GSY" ], "previousSymbols": [ "GYS" ], "ensemblId": "ENSG00000104812", "entrezId": 2997, "omim": [ "138570" ], "uniprot": [ "P13807" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 48968130, "end": 48993309, "strand": "-", "ensemblTranscript": "ENST00000323798.8", "refseqTranscript": "NM_002103.5", "ensemblProtein": "ENSP00000317904.3", "refseqProtein": "NP_002094.2", "exons": [ { "start": 48968130, "end": 48969611 }, { "start": 48969775, "end": 48969855 }, { "start": 48970546, "end": 48970709 }, { "start": 48970928, "end": 48971023 }, { "start": 48974213, "end": 48974339 }, { "start": 48974620, "end": 48974733 }, { "start": 48977924, "end": 48978002 }, { "start": 48978098, "end": 48978157 }, { "start": 48981530, "end": 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"end": 49155441, "strand": "-", "slug": "hrc" }, { "symbol": "TRPM4", "ensemblId": "ENSG00000130529", "biotype": "protein_coding", "start": 49157737, "end": 49211841, "strand": "+", "slug": "trpm4" }, { "symbol": "SLC6A16", "ensemblId": "ENSG00000063127", "biotype": "protein_coding", "start": 49289638, "end": 49325215, "strand": "-", "slug": "slc6a16" }, { "symbol": "CD37", "ensemblId": "ENSG00000104894", "biotype": "protein_coding", "start": 49335171, "end": 49343335, "strand": "+", "slug": "cd37" }, { "symbol": "TEAD2", "ensemblId": "ENSG00000074219", "biotype": "protein_coding", "start": 49340389, "end": 49362729, "strand": "-", "slug": "tead2" }, { "symbol": "DKKL1", "ensemblId": "ENSG00000104901", "biotype": "protein_coding", "start": 49361783, "end": 49375120, "strand": "+", "slug": "dkkl1" }, { "symbol": "KASH5", "ensemblId": "ENSG00000161609", "biotype": "protein_coding", "start": 49388219, "end": 49417990, "strand": "+", "slug": "kash5" }, { "symbol": "PTH2", "ensemblId": "ENSG00000142538", "biotype": "protein_coding", "start": 49422419, "end": 49423660, "strand": "-", "slug": "pth2" }, { "symbol": "GFY", "ensemblId": "ENSG00000261949", "biotype": "protein_coding", "start": 49423749, "end": 49428987, "strand": "+", "slug": "gfy" }, { "symbol": "SLC17A7", "ensemblId": "ENSG00000104888", "biotype": "protein_coding", "start": 49429399, "end": 49443197, "strand": "-", "slug": "slc17a7" }, { "symbol": "PIH1D1", "ensemblId": "ENSG00000104872", "biotype": "protein_coding", "start": 49446291, "end": 49453537, "strand": "-", "slug": "pih1d1" }, { "symbol": "ALDH16A1", "ensemblId": "ENSG00000161618", "biotype": "protein_coding", "start": 49453146, "end": 49471052, "strand": "+", "slug": "aldh16a1" }, { "symbol": "", "ensemblId": "ENSG00000269469", "biotype": "protein_coding", "start": 49462752, "end": 49486231, "strand": "+" }, { "symbol": "FLT3LG", "ensemblId": "ENSG00000090554", "biotype": "protein_coding", "start": 49474150, "end": 49486233, "strand": "+", "slug": "flt3lg" } ], "truncated": false }, "reports": [ { "slug": "glycogen-storage-disease", "name": "Glükogeenoosi haigus", "diseases": [ { "mondoId": "MONDO:0012693", "name": "Lihase glükogeen-süntaasi puudulikkus", "genes": 1, "inheritance": "autosomal-recessive", "description": "Põhjustavad variandid geenis GYS1, mis viivad füüsilise koormuse talumatuseni ja südamelihase haiguseni koos äkilise südameseiskumise riskiga.", "management": "Teadmine võimaldab südame jälgimist ning nõuandeid ohutu koormustaseme kohta.", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/et/conditions/glycogen-storage-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "bilateral-tonic-clonic-seizure-with-generalized-onset", "name": "Bilateral tonic-clonic seizure with generalized onset", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-generalized-onset" }, { "slug": "cardiomyocyte-hypertrophy", "name": "Cardiomyocyte hypertrophy", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cardiomyocyte-hypertrophy" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "decreased-muscle-glycogen-content", "name": "Decreased muscle glycogen content", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-muscle-glycogen-content" }, { "slug": "decreased-myocardial-glycogen-content", "name": "Decreased myocardial glycogen content", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-myocardial-glycogen-content" }, { "slug": "difficulty-climbing-stairs", "name": "Difficulty walking up stairs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/difficulty-climbing-stairs" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "exercise-induced-myalgia", "name": "Exercise-induced muscle pain", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/exercise-induced-myalgia" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "failure-to-elevate-lactate-upon-ischemic-exercise-test", "name": "Failure to elevate lactate upon ischemic exercise test", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-elevate-lactate-upon-ischemic-exercise-test" }, { "slug": "syncope", "name": "Fainting spell", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/syncope" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "fatty-replacement-of-skeletal-muscle", "name": "Fatty replacement of skeletal muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "cardiac-arrest", "name": "Heart stops beating", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cardiac-arrest" }, { "slug": "interictal-eeg-abnormality", "name": "Interictal EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/interictal-eeg-abnormality" }, { "slug": "asthenia", "name": "Lack of energy and strength", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/asthenia" }, { "slug": "left-atrial-enlargement", "name": "Left atrial enlargement", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/left-atrial-enlargement" }, { "slug": "left-ventricular-hypertrophy", "name": "Left ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy" }, { "slug": "limb-pain", "name": "Limb pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-pain" }, { "slug": "limited-ankle-dorsiflexion", "name": "Limited ankle dorsiflexion", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limited-ankle-dorsiflexion" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "myalgia", "name": "Muscle ache", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/myalgia" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "prolonged-qtc-interval", "name": "Prolonged QTc interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-qtc-interval" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "ragged-red-muscle-fibers", "name": "Ragged-red muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ragged-red-muscle-fibers" }, { "slug": "skeletal-myopathy", "name": "Skeletal myopathy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-myopathy" }, { "slug": "stroke", "name": "Stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/stroke" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "sudden-death", "name": "Sudden death", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sudden-death" }, { "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": "type-2-muscle-fiber-atrophy", "name": "Type 2 muscle fiber atrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/type-2-muscle-fiber-atrophy" }, { "slug": "ventricular-septal-hypertrophy", "name": "Ventricular septal hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ventricular-septal-hypertrophy" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }