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"slug": "noxo1" }, { "symbol": "GFER", "ensemblId": "ENSG00000127554", "biotype": "protein_coding", "start": 1983699, "end": 1987749, "strand": "+", "slug": "gfer" }, { "symbol": "SYNGR3", "ensemblId": "ENSG00000127561", "biotype": "protein_coding", "start": 1989637, "end": 1994275, "strand": "+", "slug": "syngr3" }, { "symbol": "ZNF598", "ensemblId": "ENSG00000167962", "biotype": "protein_coding", "start": 1997654, "end": 2009821, "strand": "-", "slug": "znf598" }, { "symbol": "NPW", "ensemblId": "ENSG00000183971", "biotype": "protein_coding", "start": 2009926, "end": 2020755, "strand": "+", "slug": "npw" }, { "symbol": "NHERF2", "ensemblId": "ENSG00000065054", "biotype": "protein_coding", "start": 2025356, "end": 2039026, "strand": "+", "slug": "nherf2" }, { "symbol": "NTHL1", "ensemblId": "ENSG00000065057", "biotype": "protein_coding", "start": 2039814, "end": 2047866, "strand": "-", "slug": "nthl1" }, { "symbol": "TSC2", "ensemblId": "ENSG00000103197", "biotype": "protein_coding", "start": 2047345, "end": 2089491, "strand": "+", "slug": "tsc2" }, { "symbol": "PKD1", "ensemblId": "ENSG00000008710", "biotype": "protein_coding", "start": 2088708, "end": 2135898, "strand": "-", "slug": "pkd1" }, { "symbol": "RAB26", "ensemblId": "ENSG00000167964", "biotype": "protein_coding", "start": 2140803, "end": 2154165, "strand": "+", "slug": "rab26" }, { "symbol": "TRAF7", "ensemblId": "ENSG00000131653", "biotype": "protein_coding", "start": 2155692, "end": 2178129, "strand": "+", "slug": "traf7" }, { "symbol": "CASKIN1", "ensemblId": "ENSG00000167971", "biotype": "protein_coding", "start": 2177180, "end": 2196788, "strand": "-", "slug": "caskin1" }, { "symbol": "MLST8", "ensemblId": "ENSG00000167965", "biotype": "protein_coding", "start": 2204248, "end": 2209453, "strand": "+", "slug": "mlst8" }, { "symbol": "BRICD5", "ensemblId": "ENSG00000182685", "biotype": "protein_coding", "start": 2209252, "end": 2210905, "strand": "-", "slug": "bricd5" }, { "symbol": "PGP", "ensemblId": "ENSG00000184207", "biotype": "protein_coding", "start": 2211593, "end": 2214846, "strand": "-", "slug": "pgp" }, { "symbol": "E4F1", "ensemblId": "ENSG00000167967", "biotype": "protein_coding", "start": 2223440, "end": 2235743, "strand": "+", "slug": "e4f1" }, { "symbol": "DNASE1L2", "ensemblId": "ENSG00000167968", "biotype": "protein_coding", "start": 2235816, "end": 2238711, "strand": "+", "slug": "dnase1l2" }, { "symbol": "ECI1", "ensemblId": "ENSG00000167969", "biotype": "protein_coding", "start": 2239376, "end": 2252300, "strand": "-", "slug": "eci1" }, { "symbol": "RNPS1", "ensemblId": "ENSG00000205937", "biotype": "protein_coding", "start": 2253116, "end": 2268413, "strand": "-", "slug": "rnps1" }, { "symbol": "ABCA3", "ensemblId": "ENSG00000167972", "biotype": "protein_coding", "start": 2275878, "end": 2340788, "strand": "-", "slug": "abca3" }, { "symbol": "CCNF", "ensemblId": "ENSG00000162063", "biotype": "protein_coding", "start": 2429394, "end": 2458913, "strand": "+", "slug": "ccnf" } ], "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": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/et/conditions/dilated-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": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "cardiogenic-shock", "name": "Cardiogenic shock", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiogenic-shock" }, { "slug": "emg-abnormality", "name": "EMG abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-abnormality" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "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": "pulmonary-arterial-hypertension", "name": "Increased blood pressure in blood vessels of lungs", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension" }, { "slug": "interstitial-cardiac-fibrosis", "name": "Interstitial cardiac fibrosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/interstitial-cardiac-fibrosis" }, { "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": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "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": "muscular-ventricular-septal-defect", "name": "Muscular ventricular septal defect", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscular-ventricular-septal-defect" }, { "slug": "orthopnea", "name": "Orthopnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/orthopnea" }, { "slug": "patent-foramen-ovale", "name": "Patent foramen ovale", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/patent-foramen-ovale" }, { "slug": "perinuclear-cardiomyocyte-vacuolization", "name": "Perinuclear cardiomyocyte vacuolization", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/perinuclear-cardiomyocyte-vacuolization" }, { "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": "right-atrial-enlargement", "name": "Right atrial enlargement", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "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": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "thromboembolic-stroke", "name": "Thromboembolic stroke", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thromboembolic-stroke" }, { "slug": "tricuspid-regurgitation", "name": "Tricuspid regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tricuspid-regurgitation" } ], "related": [ { "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": "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" }, { "slug": "des", "symbol": "DES", "name": "desmin", "shared": 1, "url": "https://dantelabs.com/et/genes/des" }, { "slug": "dmd", "symbol": "DMD", "name": "dystrophin", "shared": 1, "url": "https://dantelabs.com/et/genes/dmd" }, { "slug": "dolk", "symbol": "DOLK", "name": "dolichol kinase", "shared": 1, "url": "https://dantelabs.com/et/genes/dolk" }, { "slug": "emd", "symbol": "EMD", "name": "emerin", "shared": 1, "url": "https://dantelabs.com/et/genes/emd" }, { "slug": "fhl1", "symbol": "FHL1", "name": "four and a half LIM domains 1", "shared": 1, "url": "https://dantelabs.com/et/genes/fhl1" }, { "slug": "fktn", "symbol": "FKTN", "name": "fukutin", "shared": 1, "url": "https://dantelabs.com/et/genes/fktn" }, { "slug": "flii", "symbol": "FLII", "name": "FLII actin remodeling protein", "shared": 1, "url": "https://dantelabs.com/et/genes/flii" }, { "slug": "flnc", "symbol": "FLNC", "name": "filamin C", "shared": 1, "url": "https://dantelabs.com/et/genes/flnc" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }