{
  "url": "https://dantelabs.com/nl/genes/pkd1l1",
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    "symbol": "PKD1L1",
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      "release": "87",
      "chrom": "7",
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      "strand": "-"
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    "neighbourhood": {
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      "genes": [
        {
          "symbol": "TNS3",
          "ensemblId": "ENSG00000136205",
          "biotype": "protein_coding",
          "start": 47275149,
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          "slug": "tns3"
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        {
          "symbol": "HUS1",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "hus1"
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        {
          "symbol": "SUN3",
          "ensemblId": "ENSG00000164744",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "sun3"
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        {
          "symbol": "C7orf57",
          "ensemblId": "ENSG00000164746",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "UPP1",
          "ensemblId": "ENSG00000183696",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "upp1"
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        {
          "symbol": "ABCA13",
          "ensemblId": "ENSG00000179869",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "abca13"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "heterotaxy-laterality-defects",
        "name": "Heterotaxie en laterale-afwijkingen",
        "diseases": [
          {
            "mondoId": "MONDO:0018677",
            "name": "Viscerale heterotaxie",
            "genes": 11,
            "inheritance": null,
            "description": "Afwijkende links-rechts-rangschikking van de inwendige organen, veroorzaakt door veranderingen in genen zoals ZIC3 (X-gebonden), NODAL, CFC1, MMP21 en PKD1L1, vaak met complexe hartafwijkingen en afwijkingen van de milt.",
            "management": "Door hiervan op de hoogte te zijn, kunt u beter voorbereid zijn op hart- en buikonderzoek met beeldvorming, op infectiepreventie als de milt ontbreekt, en op erfelijkheidsadvies over voortplanting.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/heterotaxy-laterality-defects"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-situs-inversus",
        "name": "Abdominal situs inversus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abdominal-situs-inversus"
      },
      {
        "slug": "aortopulmonary-collateral-arteries",
        "name": "Aortopulmonary collateral arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortopulmonary-collateral-arteries"
      },
      {
        "slug": "atrial-situs-ambiguous",
        "name": "Atrial situs ambiguous",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-situs-ambiguous"
      },
      {
        "slug": "atrial-situs-inversus",
        "name": "Atrial situs inversus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-situs-inversus"
      },
      {
        "slug": "double-outlet-right-ventricle",
        "name": "Double outlet right ventricle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/double-outlet-right-ventricle"
      },
      {
        "slug": "dextrocardia",
        "name": "Heart tip and four chambers point towards right side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dextrocardia"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "levotransposition-of-the-great-arteries",
        "name": "Levotransposition of the great arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/levotransposition-of-the-great-arteries"
      },
      {
        "slug": "pulmonary-artery-atresia",
        "name": "Pulmonary artery atresia",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-artery-atresia"
      },
      {
        "slug": "right-aortic-arch",
        "name": "Right aortic arch",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/right-aortic-arch"
      },
      {
        "slug": "unbalanced-atrioventricular-canal-defect",
        "name": "Unbalanced atrioventricular canal defect",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unbalanced-atrioventricular-canal-defect"
      },
      {
        "slug": "hypoplastic-left-ventricle",
        "name": "Underdeveloped left heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplastic-left-ventricle"
      }
    ],
    "related": [
      {
        "slug": "acvr2b",
        "symbol": "ACVR2B",
        "name": "activin A receptor type 2B",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/acvr2b"
      },
      {
        "slug": "cfap53",
        "symbol": "CFAP53",
        "name": "cilia and flagella associated protein 53",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cfap53"
      },
      {
        "slug": "cfc1",
        "symbol": "CFC1",
        "name": "cryptic, EGF-CFC family member 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cfc1"
      },
      {
        "slug": "cirop",
        "symbol": "CIROP",
        "name": "ciliated left-right organizer metallopeptidase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cirop"
      },
      {
        "slug": "daw1",
        "symbol": "DAW1",
        "name": "dynein assembly factor with WD repeats 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/daw1"
      },
      {
        "slug": "gdf1",
        "symbol": "GDF1",
        "name": "growth differentiation factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gdf1"
      },
      {
        "slug": "mmp21",
        "symbol": "MMP21",
        "name": "matrix metallopeptidase 21",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/mmp21"
      },
      {
        "slug": "mns1",
        "symbol": "MNS1",
        "name": "meiosis specific nuclear structural 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/mns1"
      },
      {
        "slug": "nodal",
        "symbol": "NODAL",
        "name": "nodal growth differentiation factor",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/nodal"
      },
      {
        "slug": "zic3",
        "symbol": "ZIC3",
        "name": "Zic family zinc finger 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/zic3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}