{
  "url": "https://dantelabs.com/nl/genes/cfd",
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      "ADN"
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      "DF",
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      "134350"
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      "P00746"
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          "symbol": "R3HDM4",
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          "symbol": "KISS1R",
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        {
          "symbol": "ARID3A",
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          "symbol": "WDR18",
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          "symbol": "GRIN3B",
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        {
          "symbol": "TMEM259",
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        {
          "symbol": "CNN2",
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          "symbol": "ABCA7",
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        {
          "symbol": "ARHGAP45",
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          "symbol": "POLR2E",
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        {
          "symbol": "SBNO2",
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        {
          "symbol": "STK11",
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        {
          "symbol": "CBARP",
          "ensemblId": "ENSG00000099625",
          "biotype": "protein_coding",
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          "slug": "cbarp"
        },
        {
          "symbol": "ATP5F1D",
          "ensemblId": "ENSG00000099624",
          "biotype": "protein_coding",
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          "slug": "atp5f1d"
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        {
          "symbol": "MIDN",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "CIRBP",
          "ensemblId": "ENSG00000099622",
          "biotype": "protein_coding",
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          "slug": "cirbp"
        },
        {
          "symbol": "FAM174C",
          "ensemblId": "ENSG00000310576",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "FAM174C",
          "ensemblId": "ENSG00000228300",
          "biotype": "protein_coding",
          "start": 1276021,
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          "strand": "+",
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        },
        {
          "symbol": "EFNA2",
          "ensemblId": "ENSG00000099617",
          "biotype": "protein_coding",
          "start": 1285873,
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          "strand": "+",
          "slug": "efna2"
        },
        {
          "symbol": "PWWP3A",
          "ensemblId": "ENSG00000160953",
          "biotype": "protein_coding",
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          "slug": "pwwp3a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "complement-and-properdin-deficiencies",
        "name": "Erfelijke tekorten aan complementfactoren en properdine",
        "diseases": [
          {
            "mondoId": "MONDO:0013487",
            "name": "Tekort aan complementfactor D",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Veroorzaakt door veranderingen in CFD verstoort het de alternatieve complementroute en maakt het vatbaar voor Neisseria-infecties.",
            "management": "Meningokokkenvaccinatie wordt aanbevolen.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/complement-and-properdin-deficiencies"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Overige aangeboren immuunstoornissen",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Aangeboren immuundeficiëntie",
            "genes": 114,
            "inheritance": null,
            "description": "Erfelijke aandoeningen van het immuunsysteem die worden veroorzaakt door veranderingen in één gen en die invloed hebben op hoe het lichaam infecties bestrijdt of ontstekingen reguleert.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Immuundeficiëntieziekte",
            "genes": 170,
            "inheritance": null,
            "description": "Ziekte waarbij er een tekort of defect is in de mechanismen van de immuniteit, zowel cellulair als humoraal.",
            "management": "HSCT bij SCID en ernstige PID's; immunoglobulinevervangende therapie (IVIG/SCIG) bij antilichaamdeficiënties; leniolisib (Joenja, FDA 2023) bij APDS; genetherapie bij ADA-SCID; abatacept bij CTLA4- of LRBA-deficiëntie; profylactische antibiotica; G-CSF bij CGD",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "partial-functional-complement-factor-d-deficiency",
        "name": "Partial functional complement factor D deficiency",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/partial-functional-complement-factor-d-deficiency"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      }
    ],
    "related": [
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/c1qa"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/c1qb"
      },
      {
        "slug": "c1qc",
        "symbol": "C1QC",
        "name": "complement C1q C chain",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/c1qc"
      },
      {
        "slug": "c1s",
        "symbol": "C1S",
        "name": "complement C1s",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/c1s"
      },
      {
        "slug": "c2",
        "symbol": "C2",
        "name": "complement C2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/c2"
      },
      {
        "slug": "c3",
        "symbol": "C3",
        "name": "complement C3",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/c3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}