{
  "url": "https://dantelabs.com/hu/genes/il6r",
  "gene": {
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    "name": "interleukin 6 receptor",
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      "CD126",
      "IL-6R",
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      "P08887"
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        {
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        {
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        {
          "symbol": "CHRNB2",
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          "biotype": "protein_coding",
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        {
          "symbol": "ADAR",
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        {
          "symbol": "KCNN3",
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        {
          "symbol": "PMVK",
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hyper-ige-syndrome",
        "name": "Hyper-IgE Syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0018037",
            "name": "Hyper-IgE Syndrome",
            "genes": 7,
            "inheritance": null,
            "description": "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hyper-ige-syndrome"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Other Inborn Errors of Immunity",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Inborn error of immunity",
            "genes": 114,
            "inheritance": null,
            "description": "Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.",
            "management": null,
            "evidence": {
              "gencc": [
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              ],
              "acmgSf": false,
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            },
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          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Immunodeficiency Disease",
            "genes": 170,
            "inheritance": null,
            "description": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.",
            "management": "HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "atopic-dermatitis",
        "name": "Baby eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/atopic-dermatitis"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "decreased-circulating-c-reactive-protein-concentration",
        "name": "Decreased circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "decreased-class-switched-memory-b-cell-proportion",
        "name": "Decreased class-switched memory B cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-class-switched-memory-b-cell-proportion"
      },
      {
        "slug": "inappropriate-absence-of-fever",
        "name": "Inappropriate absence of fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/inappropriate-absence-of-fever"
      },
      {
        "slug": "increased-circulating-ige-concentration",
        "name": "Increased circulating IgE concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-ige-concentration"
      },
      {
        "slug": "increased-circulating-interleukin-6-concentration",
        "name": "Increased circulating interleukin 6 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-interleukin-6-concentration"
      },
      {
        "slug": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "cutaneous-abscess",
        "name": "Skin abscess",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/cutaneous-abscess"
      }
    ],
    "related": [
      {
        "slug": "dock8",
        "symbol": "DOCK8",
        "name": "dedicator of cytokinesis 8",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/dock8"
      },
      {
        "slug": "il6st",
        "symbol": "IL6ST",
        "name": "interleukin 6 cytokine family signal transducer",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/il6st"
      },
      {
        "slug": "spink5",
        "symbol": "SPINK5",
        "name": "serine peptidase inhibitor Kazal type 5",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/spink5"
      },
      {
        "slug": "stat3",
        "symbol": "STAT3",
        "name": "signal transducer and activator of transcription 3",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/stat3"
      },
      {
        "slug": "stat6",
        "symbol": "STAT6",
        "name": "signal transducer and activator of transcription 6",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/stat6"
      },
      {
        "slug": "znf341",
        "symbol": "ZNF341",
        "name": "zinc finger protein 341",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/znf341"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/btk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}