{
  "url": "https://dantelabs.com/el/genes/il12rb1",
  "gene": {
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    "symbol": "IL12RB1",
    "name": "interleukin 12 receptor subunit beta 1",
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      "CD212"
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          "biotype": "protein_coding",
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          "symbol": "B3GNT3",
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        {
          "symbol": "JAK3",
          "ensemblId": "ENSG00000105639",
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        {
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        {
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        {
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          "ensemblId": "ENSG00000099308",
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          "slug": "mast3"
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        {
          "symbol": "PIK3R2",
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        {
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        {
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        {
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        {
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          "biotype": "protein_coding",
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          "slug": "rab3a"
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        {
          "symbol": "PDE4C",
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        {
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        {
          "symbol": "CIST1",
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        {
          "symbol": "IQCN",
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          "biotype": "protein_coding",
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        {
          "symbol": "JUND",
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          "biotype": "protein_coding",
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          "slug": "jund"
        },
        {
          "symbol": "LSM4",
          "ensemblId": "ENSG00000130520",
          "biotype": "protein_coding",
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          "slug": "lsm4"
        },
        {
          "symbol": "PGPEP1",
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          "biotype": "protein_coding",
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          "end": 18369950,
          "strand": "+",
          "slug": "pgpep1"
        },
        {
          "symbol": "GDF15",
          "ensemblId": "ENSG00000130513",
          "biotype": "protein_coding",
          "start": 18374731,
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          "strand": "+",
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        },
        {
          "symbol": "LRRC25",
          "ensemblId": "ENSG00000175489",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "lrrc25"
        },
        {
          "symbol": "SSBP4",
          "ensemblId": "ENSG00000130511",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "ssbp4"
        },
        {
          "symbol": "ISYNA1",
          "ensemblId": "ENSG00000105655",
          "biotype": "protein_coding",
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          "end": 18438309,
          "strand": "-",
          "slug": "isyna1"
        },
        {
          "symbol": "ELL",
          "ensemblId": "ENSG00000105656",
          "biotype": "protein_coding",
          "start": 18442663,
          "end": 18522116,
          "strand": "-",
          "slug": "ell"
        },
        {
          "symbol": "FKBP8",
          "ensemblId": "ENSG00000105701",
          "biotype": "protein_coding",
          "start": 18531751,
          "end": 18544264,
          "strand": "-",
          "slug": "fkbp8"
        },
        {
          "symbol": "KXD1",
          "ensemblId": "ENSG00000105700",
          "biotype": "protein_coding",
          "start": 18557683,
          "end": 18569387,
          "strand": "+",
          "slug": "kxd1"
        },
        {
          "symbol": "UBA52",
          "ensemblId": "ENSG00000221983",
          "biotype": "protein_coding",
          "start": 18571722,
          "end": 18577550,
          "strand": "+",
          "slug": "uba52"
        },
        {
          "symbol": "CRLF1",
          "ensemblId": "ENSG00000006016",
          "biotype": "protein_coding",
          "start": 18572220,
          "end": 18607741,
          "strand": "-",
          "slug": "crlf1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "mendelian-susceptibility-to-mycobacterial-disease",
        "name": "Μendelian Susceptibility to Mycobacterial Disease (MSMD)",
        "diseases": [
          {
            "mondoId": "MONDO:0019146",
            "name": "Μendelian ευαισθησία σε νόσο από μυκοβακτήρια",
            "genes": 8,
            "inheritance": null,
            "description": "Κληρονομικές ανεπάρκειες στη διαδρομή IL-12/ιντερφερόνης γάμμα, προκαλούμενες από γονίδια όπως τα IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, ISG15 και RORC.",
            "management": "Τα άτομα που επηρεάζονται και οι συγγενείς τους σε κίνδυνο θα πρέπει να αποφεύγουν το BCG και άλλα ζωντανά εμβόλια, οι λοιμώξεις χρειάζονται παρατεταμένη θεραπεία και ορισμένες μορφές ανταποκρίνονται στην ιντερφερόνη γάμμα.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/mendelian-susceptibility-to-mycobacterial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abnormal-circulating-interleukin-concentration",
        "name": "Abnormal circulating interleukin concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-interleukin-concentration"
      },
      {
        "slug": "abnormal-circulating-lipid-concentration",
        "name": "Abnormal circulating lipid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-lipid-concentration"
      },
      {
        "slug": "abnormal-intrahepatic-bile-duct-morphology",
        "name": "Abnormal intrahepatic bile duct morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-intrahepatic-bile-duct-morphology"
      },
      {
        "slug": "abnormality-of-the-thyroid-gland",
        "name": "Abnormality of the thyroid gland",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-thyroid-gland"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "antimitochondrial-antibody-positivity",
        "name": "Antimitochondrial antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/antimitochondrial-antibody-positivity"
      },
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "bcgosis",
        "name": "BCGosis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bcgosis"
      },
      {
        "slug": "biliary-cirrhosis",
        "name": "Biliary cirrhosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/biliary-cirrhosis"
      },
      {
        "slug": "celiac-disease",
        "name": "Celiac disease",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/celiac-disease"
      },
      {
        "slug": "coccidioidomycosis",
        "name": "Coccidioidomycosis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/coccidioidomycosis"
      },
      {
        "slug": "conjugated-hyperbilirubinemia",
        "name": "Conjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia"
      },
      {
        "slug": "orthostatic-hypotension",
        "name": "Decrease in blood pressure upon standing up",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthostatic-hypotension"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "disseminated-non-tuberculous-mycobacterial-infection",
        "name": "Disseminated non-tuberculous mycobacterial infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/disseminated-non-tuberculous-mycobacterial-infection"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-gamma-glutamyltransferase-level",
        "name": "Elevated gamma-glutamyltransferase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "esophageal-varix",
        "name": "Enlarged vein in esophagus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-varix"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "steatorrhea",
        "name": "Fat in feces",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/steatorrhea"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "xanthelasma",
        "name": "Fatty deposits in skin around the eyes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/xanthelasma"
      },
      {
        "slug": "gastrointestinal-inflammation",
        "name": "Gastrointestinal inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gastrointestinal-inflammation"
      },
      {
        "slug": "hepatic-encephalopathy",
        "name": "Hepatic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-encephalopathy"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "hepatocellular-carcinoma",
        "name": "Hepatocellular carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatocellular-carcinoma"
      },
      {
        "slug": "increased-circulating-iga-concentration",
        "name": "Increased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-circulating-iga-concentration"
      },
      {
        "slug": "increased-circulating-igm-concentration",
        "name": "Increased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-igm-concentration"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "lymphadenitis",
        "name": "Inflammation of the lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lymphadenitis"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "recurrent-candida-infection",
        "name": "Recurrent Candida infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-candida-infection"
      },
      {
        "slug": "recurrent-fungal-infections",
        "name": "Recurrent fungal infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fungal-infections"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-klebsiella-infection",
        "name": "Recurrent Klebsiella infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/recurrent-klebsiella-infection"
      },
      {
        "slug": "recurrent-mycobacterial-infections",
        "name": "Recurrent mycobacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-mycobacterial-infections"
      },
      {
        "slug": "salmonella-osteomyelitis",
        "name": "Salmonella bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/salmonella-osteomyelitis"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "severe-toxoplasma-infection",
        "name": "Severe Toxoplasma infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/severe-toxoplasma-infection"
      },
      {
        "slug": "dermatographic-urticaria",
        "name": "Skin writing",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dermatographic-urticaria"
      },
      {
        "slug": "tegumentary-leishmaniasis-susceptibility",
        "name": "Tegumentary leishmaniasis susceptibility",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tegumentary-leishmaniasis-susceptibility"
      },
      {
        "slug": "unusual-fungal-nail-infection",
        "name": "Unusual fungal nail infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unusual-fungal-nail-infection"
      },
      {
        "slug": "unusual-histoplasma-capsulatum-infection",
        "name": "Unusual Histoplasma capsulatum infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/unusual-histoplasma-capsulatum-infection"
      },
      {
        "slug": "vasculitis-in-the-skin",
        "name": "Vasculitis in the skin",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/vasculitis-in-the-skin"
      }
    ],
    "related": [
      {
        "slug": "ifngr1",
        "symbol": "IFNGR1",
        "name": "interferon gamma receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ifngr1"
      },
      {
        "slug": "il12b",
        "symbol": "IL12B",
        "name": "interleukin 12B",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/il12b"
      },
      {
        "slug": "il23r",
        "symbol": "IL23R",
        "name": "interleukin 23 receptor",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/il23r"
      },
      {
        "slug": "irf8",
        "symbol": "IRF8",
        "name": "interferon regulatory factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/irf8"
      },
      {
        "slug": "isg15",
        "symbol": "ISG15",
        "name": "ISG15 ubiquitin like modifier",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/isg15"
      },
      {
        "slug": "rorc",
        "symbol": "RORC",
        "name": "RAR related orphan receptor C",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/rorc"
      },
      {
        "slug": "stat1",
        "symbol": "STAT1",
        "name": "signal transducer and activator of transcription 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/stat1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}