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"fgf11" }, { "symbol": "CHRNB1", "ensemblId": "ENSG00000170175", "biotype": "protein_coding", "start": 7445004, "end": 7457710, "strand": "+", "slug": "chrnb1" }, { "symbol": "ZBTB4", "ensemblId": "ENSG00000174282", "biotype": "protein_coding", "start": 7459366, "end": 7484278, "strand": "-", "slug": "zbtb4" }, { "symbol": "SLC35G6", "ensemblId": "ENSG00000259224", "biotype": "protein_coding", "start": 7481446, "end": 7483496, "strand": "+", "slug": "slc35g6" }, { "symbol": "POLR2A", "ensemblId": "ENSG00000181222", "biotype": "protein_coding", "start": 7484366, "end": 7514616, "strand": "+", "slug": "polr2a" }, { "symbol": "TNFSF12", "ensemblId": "ENSG00000239697", "biotype": "protein_coding", "start": 7548508, "end": 7557890, "strand": "+", "slug": "tnfsf12" }, { "symbol": "TNFSF12-TNFSF13", "ensemblId": "ENSG00000248871", "biotype": "protein_coding", "start": 7549099, "end": 7561601, "strand": "+", "slug": "tnfsf12-tnfsf13" }, { "symbol": "TNFSF13", "ensemblId": "ENSG00000161955", "biotype": "protein_coding", "start": 7558251, "end": 7561660, "strand": "+", "slug": "tnfsf13" }, { "symbol": "SENP3", "ensemblId": "ENSG00000161956", "biotype": "protein_coding", "start": 7561867, "end": 7571969, "strand": "+", "slug": "senp3" }, { "symbol": "SENP3-EIF4A1", "ensemblId": "ENSG00000277957", "biotype": "protein_coding", "start": 7563287, "end": 7578715, "strand": "+", "slug": "senp3-eif4a1" }, { "symbol": "EIF4A1", "ensemblId": "ENSG00000161960", "biotype": "protein_coding", "start": 7572718, "end": 7579007, "strand": "+", "slug": "eif4a1" }, { "symbol": "CD68", "ensemblId": "ENSG00000129226", "biotype": "protein_coding", "start": 7579380, "end": 7582515, "strand": "+", "slug": "cd68" }, { "symbol": "MPDU1", "ensemblId": "ENSG00000129255", "biotype": "protein_coding", "start": 7583214, "end": 7594419, "strand": "+", "slug": "mpdu1" }, { "symbol": "SOX15", "ensemblId": "ENSG00000129194", "biotype": "protein_coding", "start": 7588178, "end": 7590101, "strand": "-", "slug": "sox15" }, { "symbol": "FXR2", "ensemblId": "ENSG00000129245", "biotype": "protein_coding", "start": 7591230, "end": 7614916, "strand": "-", "slug": "fxr2" }, { "symbol": "SHBG", "ensemblId": "ENSG00000129214", "biotype": "protein_coding", "start": 7613946, "end": 7633469, "strand": "+", "slug": "shbg" }, { "symbol": "SAT2", "ensemblId": "ENSG00000141504", "biotype": "protein_coding", "start": 7626234, "end": 7627879, "strand": "-", "slug": "sat2" }, { "symbol": "ATP1B2", "ensemblId": "ENSG00000129244", "biotype": "protein_coding", "start": 7646627, "end": 7657771, "strand": "+", "slug": "atp1b2" }, { "symbol": "TP53", "ensemblId": "ENSG00000141510", "biotype": "protein_coding", "start": 7661779, "end": 7687546, "strand": "-", "slug": "tp53" }, { "symbol": "WRAP53", "ensemblId": "ENSG00000141499", "biotype": "protein_coding", "start": 7686071, "end": 7703505, "strand": "+", "slug": "wrap53" }, { "symbol": "EFNB3", "ensemblId": "ENSG00000108947", "biotype": "protein_coding", "start": 7705172, "end": 7711372, "strand": "+", "slug": "efnb3" }, { "symbol": "DNAH2", "ensemblId": "ENSG00000183914", "biotype": "protein_coding", "start": 7717728, "end": 7833742, "strand": "+", "slug": "dnah2" } ], "truncated": false }, "reports": [ { "slug": "fatty-acid-oxidation-and-carnitine-cycle-disorders", "name": "Fatty Acid Oxidation & Carnitine Cycle Disorders", "diseases": [ { "mondoId": "MONDO:0017713", "name": "Disorders of Fatty Acid Oxidation and Ketogenesis", "genes": 13, "inheritance": "autosomal-recessive", "description": "A group of enzyme and transporter defects, including MCAD, VLCAD, LCHAD, SCAD and HADH deficiency, primary carnitine deficiency and carnitine-acylcarnitine translocase deficiency, that can cause low blood sugar, muscle breakdown, heart and liver problems during periods of fasting or illness.", "management": "Knowing allows avoidance of prolonged fasting, an emergency plan for illness and, where relevant, carnitine or dietary fat modification, which can prevent life-threatening episodes.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 8 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/fatty-acid-oxidation-and-carnitine-cycle-disorders" }, { "slug": "very-long-chain-acyl-coa-dehydrogenase-deficiency", "name": "Very Long Chain Acyl-Coa Dehydrogenase Deficiency", "diseases": [ { "mondoId": "MONDO:0008723", "name": "Very Long Chain Acyl-Coa Dehydrogenase Deficiency", "genes": 1, "inheritance": "autosomal-recessive", "description": "An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 8 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/very-long-chain-acyl-coa-dehydrogenase-deficiency" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Hypertrophic Cardiomyopathy", "diseases": [ { "mondoId": "MONDO:0005045", "name": "Hypertrophic Cardiomyopathy", "genes": 62, "inheritance": "autosomal-dominant", "description": "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.", "management": "Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 8 }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/hu/conditions/hypertrophic-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "anteriorly-placed-anus", "name": "Anteriorly placed anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/anteriorly-placed-anus" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "respiratory-arrest", "name": "Breathing cessation", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-arrest" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "decreased-circulating-carnitine-concentration", "name": "Carnitine deficiency", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-carnitine-concentration" }, { "slug": "hepatocellular-necrosis", "name": "Death of liver cells", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatocellular-necrosis" }, { "slug": "floppy-infant", "name": "Decreased muscle tone in infant", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/floppy-infant" }, { "slug": "hypoproteinemia", "name": "Decreased protein levels in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypoproteinemia" }, { "slug": "diminished-tissue-very-long-chain-acyl-coa-dehydrogenase-activity", "name": "Diminished tissue very long-chain acyl-CoA dehydrogenase activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/diminished-tissue-very-long-chain-acyl-coa-dehydrogenase-activity" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "tachycardia", "name": "Elevated heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/tachycardia" }, { "slug": "elevated-urinary-dicarboxylic-acid-level", "name": "Elevated urinary dicarboxylic acid level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/elevated-urinary-dicarboxylic-acid-level" }, { "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": "enlarged-cisterna-magna", "name": "Enlarged cisterna magna", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/enlarged-cisterna-magna" }, { "slug": "cardiomegaly", "name": "Enlarged heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cardiomegaly" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "episodic-tachypnea", "name": "Episodic tachypnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/episodic-tachypnea" }, { "slug": "episodic-vomiting", "name": "Episodic vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/episodic-vomiting" }, { "slug": "exercise-induced-myalgia", "name": "Exercise-induced muscle pain", "systems": [ "constitutional-symptom" ], "url": "https://dantelabs.com/traits/exercise-induced-myalgia" }, { "slug": "exercise-induced-myoglobinuria", "name": "Exercise-induced myoglobinuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/exercise-induced-myoglobinuria" }, { "slug": "exercise-induced-rhabdomyolysis", "name": "Exercise-induced rhabdomyolysis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exercise-induced-rhabdomyolysis" }, { "slug": "hepatic-steatosis", "name": "Fatty infiltration of liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatic-steatosis" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "pericardial-effusion", "name": "Fluid around heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pericardial-effusion" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "hyperammonemia", "name": "High blood ammonia levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperammonemia" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": 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