{ "url": "https://dantelabs.com/tr/genes/tnnt2", "gene": { "slug": "tnnt2", "symbol": "TNNT2", "name": "troponin T2, cardiac type", "hgnc": "HGNC:11949", "summary": null, "location": "1q32.1", "locusType": "gene with protein product", "aliases": [ "CMPD2" ], "previousSymbols": [ "CMH2", "CMD1D" ], "ensemblId": "ENSG00000118194", "entrezId": 7139, "omim": [ "191045" ], "uniprot": [ "P45379" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 201359014, "end": 201377680, "strand": "-", "ensemblTranscript": "ENST00000656932.1", "refseqTranscript": "NM_001276345.2", "ensemblProtein": "ENSP00000499593.1", "refseqProtein": "NP_001263274.1", "exons": [ { "start": 201359014, "end": 201359255 }, { "start": 201359623, "end": 201359663 }, { "start": 201361279, "end": 201361369 }, { "start": 201361913, "end": 201362022 }, { "start": 201362386, "end": 201362394 }, { "start": 201363296, "end": 201363406 }, { "start": 201364298, "end": 201364375 }, { "start": 201365191, "end": 201365307 }, { "start": 201365610, "end": 201365670 }, { "start": 201366838, "end": 201366871 }, { "start": 201367771, "end": 201367806 }, { "start": 201368162, "end": 201368227 }, { "start": 201369816, "end": 201369845 }, { "start": 201372027, "end": 201372041 }, { "start": 201372145, "end": 201372155 }, { "start": 201373214, "end": 201373268 }, { "start": 201377623, "end": 201377680 } ], "cds": { "start": 201359210, "end": 201373254 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 201328136, "end": 201346890, "strand": "-" }, "neighbourhood": { "release": "116", "start": 200868347, "end": 201868346, "genes": [ { "symbol": "GPR25", "ensemblId": "ENSG00000170128", "biotype": "protein_coding", "start": 200872981, "end": 200874178, "strand": "+", "slug": "gpr25" }, { "symbol": "INAVA", "ensemblId": "ENSG00000163362", "biotype": "protein_coding", "start": 200890995, "end": 200915742, "strand": "+", "slug": "inava" }, { "symbol": "KIF21B", "ensemblId": "ENSG00000116852", "biotype": "protein_coding", "start": 200969390, "end": 201023726, "strand": "-", "slug": "kif21b" }, { "symbol": "CACNA1S", "ensemblId": "ENSG00000081248", "biotype": "protein_coding", "start": 201039512, "end": 201112464, "strand": "-", "slug": "cacna1s" }, { "symbol": "ASCL5", "ensemblId": "ENSG00000232237", "biotype": "protein_coding", "start": 201113943, "end": 201127184, "strand": "-", "slug": "ascl5" }, { "symbol": "TMEM9", "ensemblId": "ENSG00000116857", "biotype": "protein_coding", "start": 201134772, "end": 201172330, "strand": "-", "slug": "tmem9" }, { "symbol": "IGFN1", "ensemblId": "ENSG00000163395", "biotype": "protein_coding", "start": 201190824, "end": 201228952, "strand": "+", "slug": "igfn1" }, { "symbol": "PKP1", "ensemblId": "ENSG00000081277", "biotype": "protein_coding", "start": 201283452, "end": 201332993, "strand": "+", "slug": "pkp1" }, { "symbol": "LAD1", "ensemblId": "ENSG00000159166", "biotype": "protein_coding", "start": 201380212, "end": 201399915, "strand": "-", "slug": "lad1" }, { "symbol": "TNNI1", "ensemblId": "ENSG00000159173", "biotype": "protein_coding", "start": 201403784, "end": 201429866, "strand": "-", "slug": "tnni1" }, { "symbol": "PHLDA3", "ensemblId": "ENSG00000174307", "biotype": "protein_coding", "start": 201463858, "end": 201469430, "strand": "-", "slug": "phlda3" }, { "symbol": "CSRP1", "ensemblId": "ENSG00000159176", "biotype": "protein_coding", "start": 201483530, "end": 201540142, "strand": "-", "slug": "csrp1" }, { "symbol": "NAV1", "ensemblId": "ENSG00000134369", "biotype": "protein_coding", "start": 201538946, "end": 201826969, "strand": "+", "slug": "nav1" }, { "symbol": "IPO9", "ensemblId": "ENSG00000198700", "biotype": "protein_coding", "start": 201829104, "end": 201884291, "strand": "+", "slug": "ipo9" } ], "truncated": false }, "reports": [ { "slug": "dilated-cardiomyopathy", "name": "Dilate Kardiyomiyopati", "diseases": [ { "mondoId": "MONDO:0005021", "name": "Dilate Kardiyomiyopati", "genes": 50, "inheritance": null, "description": "Koroner arter veya kapak hastalığıyla açıklanamayan, sol ventrikülün genişleyip zayıflaması; kalıtsal formlar TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN ve diğer birçok genle ilişkilidir ve Barth sendromu ile Emery-Dreifuss kas distrofilerini içerir.", "management": "Genetik bir nedenin bilinmesi, kalp takibinin daha erken başlamasına ve aile taramasının yapılmasına destek olur. LMNA, FLNC ve RBM20 gibi yüksek aritmi riski taşıyan genler için ise ritim takibi ve implante edilebilir defibrilatör kararlarında yol gösterici olur.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 11 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/dilated-cardiomyopathy" }, { "slug": "left-ventricular-noncompaction", "name": "Sol Ventrikül Noncompaction", "diseases": [ { "mondoId": "MONDO:0018901", "name": "Sol Ventrikül Noncompaction", "genes": 6, "inheritance": null, "description": "Sol ventrikülün kalın, süngerimsi bir iç tabakasıyla seyreden, MYH7, ACTC1, TNNT2, TPM1 ve MYBPC3 gibi sarkomer genlerine ve ayrıca LDB3, PRDM16 ve MIB1 genlerine bağlanan bir kalp kası hastalığıdır.", "management": "Bu durumun bilinmesi kalp görüntülemesi ve ritim takibi ile yakın akrabaların taranmasına destek olur.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 11 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/left-ventricular-noncompaction" }, { "slug": "restrictive-cardiomyopathy", "name": "Restriktif Kardiyomiyopati", "diseases": [ { "mondoId": "MONDO:0012900", "name": "Ailesel Restriktif Kardiyomiyopati 3 (TNNT2)", "genes": 1, "inheritance": "autosomal-dominant", "description": "Sarkomer geni TNNT2'deki değişikliklerden kaynaklanan bir restriktif kardiyomiyopati türü.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/restrictive-cardiomyopathy" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Hipertrofik Kardiyomiyopati", "diseases": [ { "mondoId": "MONDO:0005045", "name": "Hipertrofik Kardiyomiyopati", "genes": 62, "inheritance": "autosomal-dominant", "description": "Miyokardın belirgin bir neden olmaksızın hipertrofiye uğradığı bir durum. Hipertrofi genellikle asimetriktir ve ventriküler çıkış yolu obstrüksiyonu ile ilişkili olabilir.", "management": "Beta-blokerler, dihidropiridin olmayan kalsiyum kanal blokerleri, aktivite kısıtlaması, genetik danışmanlık", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 10 }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/hypertrophic-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "abnormal-left-ventricular-function", "name": "Abnormal left ventricular function", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-left-ventricular-function" }, { "slug": "abnormal-st-segment", "name": "Abnormal ST segment", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-st-segment" }, { "slug": "angina-pectoris", "name": "Angina pectoris", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/angina-pectoris" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "aortic-aneurysm", "name": "Bulge in wall of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/aortic-aneurysm" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "complete-right-bundle-branch-block", "name": "Complete right bundle branch block", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/complete-right-bundle-branch-block" }, { "slug": "emg-abnormality", "name": "EMG abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-abnormality" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "pulmonary-edema", "name": "Excess fluid in lungs", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonary-edema" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "syncope", "name": "Fainting spell", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/syncope" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "incomplete-right-bundle-branch-block", "name": "Incomplete right bundle branch block", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/incomplete-right-bundle-branch-block" }, { "slug": "increased-circulating-brain-natriuretic-peptide-concentration", "name": "Increased circulating brain natriuretic peptide concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-brain-natriuretic-peptide-concentration" }, { "slug": "increased-left-ventricular-end-diastolic-volume", "name": "Increased left ventricular end-diastolic volume", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-left-ventricular-end-diastolic-volume" }, { "slug": "interstitial-cardiac-fibrosis", "name": "Interstitial cardiac fibrosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/interstitial-cardiac-fibrosis" }, { "slug": "left-atrial-enlargement", "name": "Left atrial enlargement", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/left-atrial-enlargement" }, { "slug": "left-axis-deviation", "name": "Left axis deviation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/left-axis-deviation" }, { "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": "left-ventricular-noncompaction", "name": "Left ventricular noncompaction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/left-ventricular-noncompaction" }, { "slug": "left-ventricular-systolic-dysfunction", "name": "Left ventricular systolic dysfunction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction" }, { "slug": "lipoatrophy", "name": "Loss of fat tissue in localized area", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lipoatrophy" }, { "slug": "hypotension", "name": "Low blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotension" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "myocardial-sarcomeric-disarray", "name": "Myocardial sarcomeric disarray", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myocardial-sarcomeric-disarray" }, { "slug": "orthopnea", "name": "Orthopnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/orthopnea" }, { "slug": "peripheral-edema", "name": "Peripheral edema", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-edema" }, { "slug": "prolonged-qt-interval", "name": "Prolonged QT interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-qt-interval" }, { "slug": "pulmonary-venous-hypertension", "name": "Pulmonary venous hypertension", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-venous-hypertension" }, { "slug": "atrial-fibrillation", "name": "Quivering upper heart chambers resulting in irregular heartbeat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-fibrillation" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "reduced-left-ventricular-ejection-fraction", "name": "Reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-left-ventricular-ejection-fraction" }, { "slug": "restrictive-cardiomyopathy", "name": "Restrictive cardiomyopathy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/restrictive-cardiomyopathy" }, { "slug": "right-atrial-enlargement", "name": "Right atrial enlargement", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/right-atrial-enlargement" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "sinus-bradycardia", "name": "Sinus bradycardia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sinus-bradycardia" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "stroke", "name": "Stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/stroke" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "supraventricular-arrhythmia", "name": "Supraventricular arrhythmia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/supraventricular-arrhythmia" }, { "slug": "thromboembolic-stroke", "name": "Thromboembolic stroke", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thromboembolic-stroke" }, { "slug": "thromboembolism", "name": "Thromboembolism", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/thromboembolism" }, { "slug": "tricuspid-regurgitation", "name": "Tricuspid regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tricuspid-regurgitation" }, { "slug": "ventricular-septal-hypertrophy", "name": "Ventricular septal hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventricular-septal-hypertrophy" } ], "related": [ { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 3, "url": "https://dantelabs.com/tr/genes/actc1" }, { "slug": "ldb3", "symbol": "LDB3", "name": "LIM domain binding 3", "shared": 3, "url": "https://dantelabs.com/tr/genes/ldb3" }, { "slug": "mybpc3", "symbol": "MYBPC3", "name": "myosin binding protein C3", "shared": 3, "url": "https://dantelabs.com/tr/genes/mybpc3" }, { "slug": "myh7", "symbol": "MYH7", "name": "myosin heavy chain 7", "shared": 3, "url": "https://dantelabs.com/tr/genes/myh7" }, { "slug": "tpm1", "symbol": "TPM1", "name": "tropomyosin 1", "shared": 3, "url": "https://dantelabs.com/tr/genes/tpm1" }, { "slug": "flnc", "symbol": "FLNC", "name": "filamin C", "shared": 2, "url": "https://dantelabs.com/tr/genes/flnc" }, { "slug": "jph2", "symbol": "JPH2", "name": "junctophilin 2", "shared": 2, "url": 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