{
  "url": "https://dantelabs.com/nl/genes/masp2",
  "gene": {
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    "symbol": "MASP2",
    "name": "MBL associated serine protease 2",
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        {
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        {
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        {
          "symbol": "TARDBP",
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        {
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        {
          "symbol": "EXOSC10",
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        {
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        {
          "symbol": "ANGPTL7",
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        {
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        {
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      "truncated": false
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      {
        "slug": "immunodeficiency-disease",
        "name": "Overige aangeboren immuunstoornissen",
        "diseases": [
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            "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": {
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                "Laboratory for Molecular Medicine"
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              "inheritance": [
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            "sameAsReport": false,
            "broad": true
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          {
            "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": {
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                "Laboratory for Molecular Medicine"
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              "inheritance": [
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            "sameAsReport": false,
            "broad": true
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        ],
        "url": "https://dantelabs.com/nl/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "reduced-circulating-complement-concentration",
        "name": "Reduced circulating complement concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-circulating-complement-concentration"
      },
      {
        "slug": "systemic-lupus-erythematosus",
        "name": "Systemic lupus erythematosus",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/systemic-lupus-erythematosus"
      },
      {
        "slug": "ulcerative-colitis",
        "name": "Ulcerative colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ulcerative-colitis"
      }
    ],
    "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": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}