{
  "url": "https://dantelabs.com/no/genes/tgfbr1",
  "gene": {
    "slug": "tgfbr1",
    "symbol": "TGFBR1",
    "name": "transforming growth factor beta receptor 1",
    "hgnc": "HGNC:11772",
    "summary": null,
    "location": "9q22.33",
    "locusType": "gene with protein product",
    "aliases": [
      "ALK-5",
      "ACVRLK4",
      "ALK5",
      "TBRI",
      "TBR-i"
    ],
    "previousSymbols": [
      "MSSE",
      "ESS1"
    ],
    "ensemblId": "ENSG00000106799",
    "entrezId": 7046,
    "omim": [
      "190181"
    ],
    "uniprot": [
      "P36897"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 99105113,
      "end": 99154192,
      "strand": "+",
      "ensemblTranscript": "ENST00000374994.9",
      "refseqTranscript": "NM_004612.4",
      "ensemblProtein": "ENSP00000364133.4",
      "refseqProtein": "NP_004603.1",
      "exons": [
        {
          "start": 99105113,
          "end": 99105302
        },
        {
          "start": 99128855,
          "end": 99129100
        },
        {
          "start": 99132509,
          "end": 99132739
        },
        {
          "start": 99137859,
          "end": 99138089
        },
        {
          "start": 99142536,
          "end": 99142703
        },
        {
          "start": 99144732,
          "end": 99144888
        },
        {
          "start": 99146485,
          "end": 99146609
        },
        {
          "start": 99147654,
          "end": 99147784
        },
        {
          "start": 99149180,
          "end": 99154192
        }
      ],
      "cds": {
        "start": 99105206,
        "end": 99149305
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 101866320,
      "end": 101916474,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 98629653,
      "end": 99629652,
      "genes": [
        {
          "symbol": "GABBR2",
          "ensemblId": "ENSG00000136928",
          "biotype": "protein_coding",
          "start": 98288087,
          "end": 98709739,
          "strand": "-",
          "slug": "gabbr2"
        },
        {
          "symbol": "ANKS6",
          "ensemblId": "ENSG00000165138",
          "biotype": "protein_coding",
          "start": 98729898,
          "end": 98796965,
          "strand": "-",
          "slug": "anks6"
        },
        {
          "symbol": "GALNT12",
          "ensemblId": "ENSG00000119514",
          "biotype": "protein_coding",
          "start": 98807613,
          "end": 98851267,
          "strand": "+",
          "slug": "galnt12"
        },
        {
          "symbol": "COL15A1",
          "ensemblId": "ENSG00000204291",
          "biotype": "protein_coding",
          "start": 98942680,
          "end": 99071117,
          "strand": "+",
          "slug": "col15a1"
        },
        {
          "symbol": "ALG2",
          "ensemblId": "ENSG00000119523",
          "biotype": "protein_coding",
          "start": 99216425,
          "end": 99221992,
          "strand": "-",
          "slug": "alg2"
        },
        {
          "symbol": "SEC61B",
          "ensemblId": "ENSG00000106803",
          "biotype": "protein_coding",
          "start": 99222064,
          "end": 99230696,
          "strand": "+",
          "slug": "sec61b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "aortic-aneurysm",
        "name": "Aortaaneurisme",
        "diseases": [
          {
            "mondoId": "MONDO:0019625",
            "name": "Arvelig thorakal aortaaneurisme og aortadisseksjon",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "Arvelig utvidelse og revnning av thorakal aorta, forårsaket av endringer i gener som ACTA2, MYH11, MYLK, LOX, PRKG1, MFAP5 og THSD4.",
            "management": "Å vite om dette støtter regelmessig avbildning av aorta, kontroll av blodtrykk og tidlig forebyggende kirurgi, samt screening av slektninger.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 12
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/aortic-aneurysm"
      },
      {
        "slug": "loeys-dietz-syndrome",
        "name": "Loeys-Dietz syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0018954",
            "name": "Loeys-Dietz syndrom",
            "genes": 6,
            "inheritance": "autosomal-dominant",
            "description": "Loeys-Dietz syndrom er en sjelden genetisk bindevevssykdom med et bredt spekter av ansikts-, kar- og skjelettmanifestasjoner. Fem genetiske undertyper er beskrevet, og de danner et klinisk kontinuum.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 12
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/loeys-dietz-syndrome"
      },
      {
        "slug": "marfan-like-syndromes",
        "name": "Marfan-lignende syndromer",
        "diseases": [
          {
            "mondoId": "MONDO:0018954",
            "name": "Loeys-Dietz syndrom",
            "genes": 6,
            "inheritance": "autosomal-dominant",
            "description": "Loeys-Dietz syndrom er en sjelden, genetisk bindevevssykdom preget av et bredt spekter av kraniofaciale, vaskulære og skjelettmessige manifestasjoner. Det er beskrevet fem genetiske undertyper, som utgjør et klinisk kontinuum.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 12
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/marfan-like-syndromes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-aortic-aneurysm",
        "name": "Abdominal aortic aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-aortic-aneurysm"
      },
      {
        "slug": "abnormal-left-ventricular-function",
        "name": "Abnormal left ventricular function",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-left-ventricular-function"
      },
      {
        "slug": "abnormality-of-connective-tissue",
        "name": "Abnormality of connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-connective-tissue"
      },
      {
        "slug": "abnormality-iris-morphology",
        "name": "Abnormality of the iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-iris-morphology"
      },
      {
        "slug": "abnormal-sternum-morphology",
        "name": "Abnormality of the sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-sternum-morphology"
      },
      {
        "slug": "vascular-dilatation",
        "name": "Aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vascular-dilatation"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "bicuspid-aortic-valve",
        "name": "Aortic valve has two leaflets rather than three",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bicuspid-aortic-valve"
      },
      {
        "slug": "arterial-dissection",
        "name": "Arterial dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arterial-dissection"
      },
      {
        "slug": "arterial-tortuosity",
        "name": "Arterial tortuosity",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arterial-tortuosity"
      },
      {
        "slug": "ascending-aortic-dissection",
        "name": "Ascending aortic dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ascending-aortic-dissection"
      },
      {
        "slug": "asthma",
        "name": "Asthma",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/asthma"
      },
      {
        "slug": "atypical-scarring-of-skin",
        "name": "Atypical scarring of skin",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-scarring-of-skin"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "blue-sclerae",
        "name": "Blue outer white part of eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blue-sclerae"
      },
      {
        "slug": "dilatation-of-the-cerebral-artery",
        "name": "Brain aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "aortic-aneurysm",
        "name": "Bulge in wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aortic-aneurysm"
      },
      {
        "slug": "aortic-root-aneurysm",
        "name": "Bulge in wall of root of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aortic-root-aneurysm"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "carotid-artery-dilatation",
        "name": "Carotid artery dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/carotid-artery-dilatation"
      },
      {
        "slug": "cervical-spine-instability",
        "name": "Cervical spine instability",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cervical-spine-instability"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "chiari-malformation",
        "name": "Chiari malformation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chiari-malformation"
      },
      {
        "slug": "chronic-fatigue",
        "name": "Chronic fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-fatigue"
      },
      {
        "slug": "orofacial-cleft",
        "name": "Cleft of the mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orofacial-cleft"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "pneumothorax",
        "name": "Collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pneumothorax"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cutis-marmorata",
        "name": "Cutis marmorata",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cutis-marmorata"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "hypovolemia",
        "name": "Depleted blood volume",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypovolemia"
      },
      {
        "slug": "dermal-translucency",
        "name": "Dermal translucency",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dermal-translucency"
      },
      {
        "slug": "descending-aortic-dissection",
        "name": "Descending aortic dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/descending-aortic-dissection"
      },
      {
        "slug": "descending-thoracic-aorta-aneurysm",
        "name": "Descending thoracic aorta aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/descending-thoracic-aorta-aneurysm"
      },
      {
        "slug": "spondylolisthesis",
        "name": "Displacement of one backbone compared to another",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spondylolisthesis"
      },
      {
        "slug": "disproportionate-tall-stature",
        "name": "Disproportionate tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/disproportionate-tall-stature"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "dural-ectasia",
        "name": "Dural ectasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dural-ectasia"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "eosinophilic-infiltration-of-the-esophagus",
        "name": "Eosinophilic infiltration of the esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eosinophilic-infiltration-of-the-esophagus"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "postaxial-hand-polydactyly",
        "name": "Extra little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly"
      },
      {
        "slug": "supernumerary-ribs",
        "name": "Extra ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/supernumerary-ribs"
      },
      {
        "slug": "facial-asymmetry",
        "name": "Facial asymmetry",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/facial-asymmetry"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "high-narrow-palate",
        "name": "High, narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-narrow-palate"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "ischemic-stroke",
        "name": "Ischemic stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ischemic-stroke"
      },
      {
        "slug": "joint-dislocation",
        "name": "Joint dislocation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-dislocation"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "transient-ischemic-attack",
        "name": "Mini stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "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": "mitral-valve-prolapse",
        "name": "Mitral valve prolapse",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mitral-valve-prolapse"
      },
      {
        "slug": "mucoid-extracellular-matrix-accumulation",
        "name": "Mucoid extracellular matrix accumulation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mucoid-extracellular-matrix-accumulation"
      },
      {
        "slug": "obstructive-sleep-apnea",
        "name": "Obstructive sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/obstructive-sleep-apnea"
      },
      {
        "slug": "exotropia",
        "name": "Outward facing eye ball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exotropia"
      },
      {
        "slug": "paroxysmal-dyspnea",
        "name": "Paroxysmal dyspnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-dyspnea"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "peripheral-arterial-stenosis",
        "name": "Peripheral arterial stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-arterial-stenosis"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "camptodactyly",
        "name": "Permanent flexion of the finger or toe",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/camptodactyly"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "coronary-artery-atherosclerosis",
        "name": "Plaque build-up in arteries supplying blood to heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coronary-artery-atherosclerosis"
      },
      {
        "slug": "hypoplasia-of-the-musculature",
        "name": "Poorly developed skeletal musculature",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-musculature"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "pulmonary-artery-aneurysm",
        "name": "Pulmonary artery aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-artery-aneurysm"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "self-healing-squamous-epithelioma",
        "name": "Self-healing squamous epithelioma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/self-healing-squamous-epithelioma"
      },
      {
        "slug": "soft-skin",
        "name": "Soft skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/soft-skin"
      },
      {
        "slug": "spontaneous-pneumothorax",
        "name": "Spontaneous collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spontaneous-pneumothorax"
      },
      {
        "slug": "striae-distensae",
        "name": "Stretch marks",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/striae-distensae"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "subarachnoid-hemorrhage",
        "name": "Subarachnoid hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tall-stature"
      },
      {
        "slug": "aortic-dissection",
        "name": "Tear in inner wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aortic-dissection"
      },
      {
        "slug": "thin-skin",
        "name": "Thin skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-skin"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "uterine-rupture",
        "name": "Uterine rupture",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/uterine-rupture"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [
      {
        "slug": "tgfb2",
        "symbol": "TGFB2",
        "name": "transforming growth factor beta 2",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/tgfb2"
      },
      {
        "slug": "tgfbr2",
        "symbol": "TGFBR2",
        "name": "transforming growth factor beta receptor 2",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/tgfbr2"
      },
      {
        "slug": "acta2",
        "symbol": "ACTA2",
        "name": "actin alpha 2, smooth muscle",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/acta2"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "name": "fibrillin 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/fbn1"
      },
      {
        "slug": "foxe3",
        "symbol": "FOXE3",
        "name": "forkhead box E3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/foxe3"
      },
      {
        "slug": "lox",
        "symbol": "LOX",
        "name": "lysyl oxidase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/lox"
      },
      {
        "slug": "mfap5",
        "symbol": "MFAP5",
        "name": "microfibril associated protein 5",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/mfap5"
      },
      {
        "slug": "myh11",
        "symbol": "MYH11",
        "name": "myosin heavy chain 11",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/myh11"
      },
      {
        "slug": "mylk",
        "symbol": "MYLK",
        "name": "myosin light chain kinase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/mylk"
      },
      {
        "slug": "prkg1",
        "symbol": "PRKG1",
        "name": "protein kinase cGMP-dependent 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/prkg1"
      },
      {
        "slug": "smad2",
        "symbol": "SMAD2",
        "name": "SMAD family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/smad2"
      },
      {
        "slug": "smad3",
        "symbol": "SMAD3",
        "name": "SMAD family member 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/smad3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 16,
    "url": "https://dantelabs.com/genes/tgfbr1/variants",
    "items": [
      {
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/a202v"
      },
      {
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        "name": "A355T",
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        "symbol": "TGFBR1",
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/a355t"
      },
      {
        "slug": "e227k",
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        },
        "url": "https://dantelabs.com/genes/tgfbr1/variants/e227k"
      },
      {
        "slug": "e228del",
        "name": "E228del",
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        "symbol": "TGFBR1",
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/e228del"
      },
      {
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/g214s"
      },
      {
        "slug": "g312d",
        "name": "G312D",
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/g312d"
      },
      {
        "slug": "g312s",
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        "symbol": "TGFBR1",
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/g312s"
      },
      {
        "slug": "h283r",
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/h283r"
      },
      {
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/h315r"
      },
      {
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/l486s"
      },
      {
        "slug": "m253v",
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/m253v"
      },
      {
        "slug": "r80x",
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        "commonName": null,
        "symbol": "TGFBR1",
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/r80x"
      },
      {
        "slug": "r237g",
        "name": "R237G",
        "commonName": null,
        "symbol": "TGFBR1",
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        "position": 99137993,
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/r237g"
      },
      {
        "slug": "r487q",
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        "commonName": null,
        "symbol": "TGFBR1",
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        "position": 99149253,
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/r487q"
      },
      {
        "slug": "r487w",
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        "commonName": null,
        "symbol": "TGFBR1",
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        "position": 99149252,
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        "url": "https://dantelabs.com/genes/tgfbr1/variants/r487w"
      },
      {
        "slug": "s241l",
        "name": "S241L",
        "commonName": null,
        "symbol": "TGFBR1",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.722C>T",
        "position": 99138006,
        "grch37Position": 101900288,
        "part": {
          "kind": "exon",
          "number": 4
        },
        "url": "https://dantelabs.com/genes/tgfbr1/variants/s241l"
      }
    ]
  }
}