{
  "url": "https://dantelabs.com/no/genes/tbx20",
  "gene": {
    "slug": "tbx20",
    "symbol": "TBX20",
    "name": "T-box transcription factor 20",
    "hgnc": "HGNC:11598",
    "summary": null,
    "location": "7p14.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000164532",
    "entrezId": 57057,
    "omim": [
      "606061"
    ],
    "uniprot": [
      "Q9UMR3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 35202430,
      "end": 35254100,
      "strand": "-",
      "ensemblTranscript": "ENST00000408931.4",
      "refseqTranscript": "NM_001077653.2",
      "ensemblProtein": "ENSP00000386170.3",
      "refseqProtein": "NP_001071121.1",
      "exons": [
        {
          "start": 35202430,
          "end": 35202770
        },
        {
          "start": 35204470,
          "end": 35204582
        },
        {
          "start": 35231504,
          "end": 35231580
        },
        {
          "start": 35240879,
          "end": 35241037
        },
        {
          "start": 35244949,
          "end": 35245057
        },
        {
          "start": 35248677,
          "end": 35248841
        },
        {
          "start": 35249951,
          "end": 35250203
        },
        {
          "start": 35253494,
          "end": 35254100
        }
      ],
      "cds": {
        "start": 35202430,
        "end": 35253620
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 35242042,
      "end": 35293758,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 34728265,
      "end": 35728264,
      "genes": [
        {
          "symbol": "NPSR1",
          "ensemblId": "ENSG00000187258",
          "biotype": "protein_coding",
          "start": 34658218,
          "end": 34878332,
          "strand": "+",
          "slug": "npsr1"
        },
        {
          "symbol": "DPY19L1",
          "ensemblId": "ENSG00000173852",
          "biotype": "protein_coding",
          "start": 34921469,
          "end": 35038271,
          "strand": "-",
          "slug": "dpy19l1"
        },
        {
          "symbol": "HERPUD2",
          "ensemblId": "ENSG00000122557",
          "biotype": "protein_coding",
          "start": 35632659,
          "end": 35697459,
          "strand": "-",
          "slug": "herpud2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Dilatert kardiomyopati",
        "diseases": [
          {
            "mondoId": "MONDO:0005021",
            "name": "Dilatert kardiomyopati",
            "genes": 50,
            "inheritance": null,
            "description": "Forstørrelse og svekkelse av venstre ventrikkel som ikke forklares av sykdom i kransarteriene eller hjerteklaffene. Arvelige former skyldes varianter i TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN og mange andre gener, og omfatter Barth syndrom og Emery-Dreifuss muskeldystrofi.",
            "management": "Kjennskap til en genetisk årsak støtter tidligere hjerteoppfølging og screening av familiemedlemmer. For gener med høy risiko for arytmi, som LMNA, FLNC og RBM20, er den til hjelp ved beslutninger om rytmeovervåking og implanterbare defibrillatorer.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Strong",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/dilated-cardiomyopathy"
      },
      {
        "slug": "inherited-congenital-heart-defects",
        "name": "Arvelige medfødte hjertefeil",
        "diseases": [
          {
            "mondoId": "MONDO:0006664",
            "name": "Atrieseptumdefekt",
            "genes": 7,
            "inheritance": null,
            "description": "Et hull mellom hjertets øvre kamre; arvelige former skyldes gener som NKX2-5, GATA4, TBX20, MYH6 og ACTC1, og former med NKX2-5 medfører også risiko for progredierende hjerteblokk.",
            "management": "Kjennskap til tilstanden støtter hjertebildediagnostikk og, ved NKX2-5, regelmessige EKG-kontroller.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/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": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "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": "very-rare",
        "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": "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": "very-rare",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/first-degree-atrioventricular-block"
      },
      {
        "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": "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": "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": "occasional",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "coarctation-of-aorta",
        "name": "Narrowing of aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coarctation-of-aorta"
      },
      {
        "slug": "airway-obstruction",
        "name": "Obstructive lung disease",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "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": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "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": "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": "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": "occasional",
        "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": "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": "tricuspid-regurgitation",
        "name": "Tricuspid regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tricuspid-regurgitation"
      }
    ],
    "related": [
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/actc1"
      },
      {
        "slug": "abcc9",
        "symbol": "ABCC9",
        "name": "ATP binding cassette subfamily C member 9",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/abcc9"
      },
      {
        "slug": "bag3",
        "symbol": "BAG3",
        "name": "BAG cochaperone 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/bag3"
      },
      {
        "slug": "bag5",
        "symbol": "BAG5",
        "name": "BAG cochaperone 5",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/bag5"
      },
      {
        "slug": "des",
        "symbol": "DES",
        "name": "desmin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/des"
      },
      {
        "slug": "dmd",
        "symbol": "DMD",
        "name": "dystrophin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dmd"
      },
      {
        "slug": "dolk",
        "symbol": "DOLK",
        "name": "dolichol kinase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dolk"
      },
      {
        "slug": "emd",
        "symbol": "EMD",
        "name": "emerin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/emd"
      },
      {
        "slug": "fhl1",
        "symbol": "FHL1",
        "name": "four and a half LIM domains 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/fhl1"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/fktn"
      },
      {
        "slug": "flii",
        "symbol": "FLII",
        "name": "FLII actin remodeling protein",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/flii"
      },
      {
        "slug": "flnc",
        "symbol": "FLNC",
        "name": "filamin C",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/flnc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}