{
  "url": "https://dantelabs.com/pl/genes/tll1",
  "gene": {
    "slug": "tll1",
    "symbol": "TLL1",
    "name": "tolloid like 1",
    "hgnc": "HGNC:11843",
    "summary": null,
    "location": "4q32.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000038295",
    "entrezId": 7092,
    "omim": [
      "606742"
    ],
    "uniprot": [
      "O43897"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 165873237,
      "end": 166104457,
      "strand": "+",
      "ensemblTranscript": "ENST00000061240.7",
      "refseqTranscript": "NM_012464.5",
      "ensemblProtein": "ENSP00000061240.2",
      "refseqProtein": "NP_036596.3",
      "exons": [
        {
          "start": 165873237,
          "end": 165874073
        },
        {
          "start": 165989381,
          "end": 165989491
        },
        {
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        },
        {
          "start": 165994381,
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        },
        {
          "start": 165995061,
          "end": 165995178
        },
        {
          "start": 166003391,
          "end": 166003569
        },
        {
          "start": 166007943,
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        },
        {
          "start": 166014436,
          "end": 166014560
        },
        {
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          "end": 166025431
        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        {
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        },
        {
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        },
        {
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        },
        {
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        }
      ],
      "cds": {
        "start": 165873905,
        "end": 166100876
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 166794410,
      "end": 167025047,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 165488847,
      "end": 166488846,
      "genes": [
        {
          "symbol": "CPE",
          "ensemblId": "ENSG00000109472",
          "biotype": "protein_coding",
          "start": 165361194,
          "end": 165499352,
          "strand": "+",
          "slug": "cpe"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-congenital-heart-defects",
        "name": "Dziedziczne wrodzone wady serca",
        "diseases": [
          {
            "mondoId": "MONDO:0006664",
            "name": "Ubytek przegrody międzyprzedsionkowej",
            "genes": 7,
            "inheritance": null,
            "description": "Ubytek między górnymi jamami serca; dziedziczne postacie są wywoływane przez geny takie jak NKX2-5, GATA4, TBX20, MYH6 i ACTC1, a postacie związane z NKX2-5 wiążą się także z ryzykiem postępującego bloku serca.",
            "management": "Świadomość tej choroby wspiera badania obrazowe serca, a w przypadku NKX2-5 regularne kontrole EKG.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/inherited-congenital-heart-defects"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormal-left-ventricular-function",
        "name": "Abnormal left ventricular function",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-left-ventricular-function"
      },
      {
        "slug": "abnormal-mitral-valve-morphology",
        "name": "Abnormal mitral valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-mitral-valve-morphology"
      },
      {
        "slug": "abnormal-p-wave",
        "name": "Abnormal P wave",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-p-wave"
      },
      {
        "slug": "abnormally-loud-pulmonic-component-of-the-second-heart-sound",
        "name": "Abnormally loud pulmonic component of the second heart sound",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormally-loud-pulmonic-component-of-the-second-heart-sound"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "atrial-flutter",
        "name": "Atrial flutter",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-flutter"
      },
      {
        "slug": "cyanosis",
        "name": "Blue discoloration of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cyanosis"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "breathing-dysregulation",
        "name": "Breathing dysregulation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/breathing-dysregulation"
      },
      {
        "slug": "bundle-branch-block",
        "name": "Bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bundle-branch-block"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "clubbing-of-toes",
        "name": "Clubbed toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clubbing-of-toes"
      },
      {
        "slug": "clubbing-of-fingers",
        "name": "Clubbing of fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clubbing-of-fingers"
      },
      {
        "slug": "complete-right-bundle-branch-block",
        "name": "Complete right bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/complete-right-bundle-branch-block"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "first-degree-atrioventricular-block",
        "name": "First degree atrioventricular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/first-degree-atrioventricular-block"
      },
      {
        "slug": "fixed-splitting-of-the-second-heart-sound",
        "name": "Fixed splitting of the second heart sound",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fixed-splitting-of-the-second-heart-sound"
      },
      {
        "slug": "pedal-edema",
        "name": "Fluid accumulation in lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pedal-edema"
      },
      {
        "slug": "abnormal-respiratory-system-physiology",
        "name": "Functional respiratory abnormality",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-respiratory-system-physiology"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "increased-pulmonary-vascular-resistance",
        "name": "Increased pulmonary vascular resistance",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/increased-pulmonary-vascular-resistance"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "atrioventricular-block",
        "name": "Interruption of electrical communication between upper and lower chambers of heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrioventricular-block"
      },
      {
        "slug": "left-atrial-enlargement",
        "name": "Left atrial enlargement",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-atrial-enlargement"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "left-to-right-shunt",
        "name": "Left-to-right shunt",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/left-to-right-shunt"
      },
      {
        "slug": "transient-ischemic-attack",
        "name": "Mini stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/transient-ischemic-attack"
      },
      {
        "slug": "mitral-regurgitation",
        "name": "Mitral regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "airway-obstruction",
        "name": "Obstructive lung disease",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/airway-obstruction"
      },
      {
        "slug": "orthopnea",
        "name": "Orthopnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/orthopnea"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "peripheral-edema",
        "name": "Peripheral edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-edema"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "prolonged-pr-interval",
        "name": "Prolonged PR interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-pr-interval"
      },
      {
        "slug": "pulmonary-artery-dilatation",
        "name": "Pulmonary artery dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-artery-dilatation"
      },
      {
        "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-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "right-atrial-enlargement",
        "name": "Right atrial enlargement",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/right-atrial-enlargement"
      },
      {
        "slug": "right-ventricular-dilatation",
        "name": "Right ventricular dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/right-ventricular-dilatation"
      },
      {
        "slug": "right-ventricular-failure",
        "name": "Right ventricular failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/right-ventricular-failure"
      },
      {
        "slug": "right-to-left-shunt",
        "name": "Right-to-left shunt",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/right-to-left-shunt"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "st-segment-depression",
        "name": "ST segment depression",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/st-segment-depression"
      },
      {
        "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": "supraventricular-arrhythmia",
        "name": "Supraventricular arrhythmia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supraventricular-arrhythmia"
      },
      {
        "slug": "supraventricular-tachycardia",
        "name": "Supraventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supraventricular-tachycardia"
      },
      {
        "slug": "systolic-heart-murmur",
        "name": "Systolic heart murmur",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/systolic-heart-murmur"
      },
      {
        "slug": "third-heart-sound",
        "name": "Third heart sound",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/third-heart-sound"
      },
      {
        "slug": "thromboembolism",
        "name": "Thromboembolism",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thromboembolism"
      },
      {
        "slug": "tricuspid-regurgitation",
        "name": "Tricuspid regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tricuspid-regurgitation"
      }
    ],
    "related": [
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/actc1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "name": "GATA binding protein 6",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/gata6"
      },
      {
        "slug": "myh6",
        "symbol": "MYH6",
        "name": "myosin heavy chain 6",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/myh6"
      },
      {
        "slug": "nkx2-5",
        "symbol": "NKX2-5",
        "name": "NK2 homeobox 5",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/nkx2-5"
      },
      {
        "slug": "tbx20",
        "symbol": "TBX20",
        "name": "T-box transcription factor 20",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/tbx20"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}