{
  "url": "https://dantelabs.com/de/genes/pola2",
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          "symbol": "CATSPERH",
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          "symbol": "MRPL49",
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          "symbol": "SPDYC",
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          "symbol": "CDC42EP2",
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          "symbol": "SLC25A45",
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          "symbol": "LTBP3",
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          "symbol": "MAP3K11",
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          "biotype": "protein_coding",
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          "biotype": "protein_coding",
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        {
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          "ensemblId": "ENSG00000173039",
          "biotype": "protein_coding",
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          "slug": "rela"
        },
        {
          "symbol": "KAT5",
          "ensemblId": "ENSG00000172977",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "kat5"
        },
        {
          "symbol": "RNASEH2C",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "rnaseh2c"
        },
        {
          "symbol": "AP5B1",
          "ensemblId": "ENSG00000254470",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ap5b1"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dyskeratosis-congenita",
        "name": "Dyskeratosis congenita",
        "diseases": [
          {
            "mondoId": "MONDO:0100137",
            "name": "Telomer-Syndrome",
            "genes": 16,
            "inheritance": null,
            "description": "Störungen mit verkürzten Telomeren, die durch Varianten in Genen der Telomeraufrechterhaltung wie TERT, TERC, RTEL1 und PARN verursacht werden. Sie können auch ohne typische Hautsymptome zu Knochenmarkversagen, Lungenfibrose und Lebererkrankungen führen.",
            "management": "Es wird eine Überwachung der Blutwerte, der Lunge und der Leber empfohlen. Die Diagnose unterstützt zudem die Auswahl des Spenders und die Behandlungsentscheidungen bei einer Stammzelltransplantation.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/dyskeratosis-congenita"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [],
    "related": [
      {
        "slug": "acd",
        "symbol": "ACD",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/acd"
      },
      {
        "slug": "cdca7",
        "symbol": "CDCA7",
        "name": "cell division cycle associated 7",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cdca7"
      },
      {
        "slug": "ctc1",
        "symbol": "CTC1",
        "name": "CST telomere replication complex component 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ctc1"
      },
      {
        "slug": "dnmt3b",
        "symbol": "DNMT3B",
        "name": "DNA methyltransferase 3 beta",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/dnmt3b"
      },
      {
        "slug": "hells",
        "symbol": "HELLS",
        "name": "helicase, lymphoid specific",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/hells"
      },
      {
        "slug": "naf1",
        "symbol": "NAF1",
        "name": "nuclear assembly factor 1 ribonucleoprotein",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/naf1"
      },
      {
        "slug": "parn",
        "symbol": "PARN",
        "name": "poly(A)-specific ribonuclease",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/parn"
      },
      {
        "slug": "pot1",
        "symbol": "POT1",
        "name": "protection of telomeres 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/pot1"
      },
      {
        "slug": "rpa1",
        "symbol": "RPA1",
        "name": "replication protein A1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/rpa1"
      },
      {
        "slug": "rtel1",
        "symbol": "RTEL1",
        "name": "regulator of telomere elongation helicase 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/rtel1"
      },
      {
        "slug": "stn1",
        "symbol": "STN1",
        "name": "STN1 subunit of CST complex",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/stn1"
      },
      {
        "slug": "terc",
        "symbol": "TERC",
        "name": "telomerase RNA component",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/terc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}