{
  "url": "https://dantelabs.com/sv/genes/il12b",
  "gene": {
    "slug": "il12b",
    "symbol": "IL12B",
    "name": "interleukin 12B",
    "hgnc": "HGNC:5970",
    "summary": null,
    "location": "5q33.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CLMF",
      "IL-12B",
      "NKSF",
      "CLMF2"
    ],
    "previousSymbols": [
      "NKSF2"
    ],
    "ensemblId": "ENSG00000113302",
    "entrezId": 3593,
    "omim": [
      "161561"
    ],
    "uniprot": [
      "P29460"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 159314780,
      "end": 159330487,
      "strand": "-",
      "ensemblTranscript": "ENST00000231228.3",
      "refseqTranscript": "NM_002187.3",
      "ensemblProtein": "ENSP00000231228.2",
      "refseqProtein": "NP_002178.2",
      "exons": [
        {
          "start": 159314780,
          "end": 159316100
        },
        {
          "start": 159316685,
          "end": 159316816
        },
        {
          "start": 159318736,
          "end": 159318893
        },
        {
          "start": 159320306,
          "end": 159320520
        },
        {
          "start": 159322394,
          "end": 159322511
        },
        {
          "start": 159323054,
          "end": 159323329
        },
        {
          "start": 159326695,
          "end": 159326782
        },
        {
          "start": 159330432,
          "end": 159330487
        }
      ],
      "cds": {
        "start": 159316685,
        "end": 159326782
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 158741791,
      "end": 158757895,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 158822634,
      "end": 159822633,
      "genes": [
        {
          "symbol": "EBF1",
          "ensemblId": "ENSG00000164330",
          "biotype": "protein_coding",
          "start": 158695920,
          "end": 159100331,
          "strand": "-",
          "slug": "ebf1"
        },
        {
          "symbol": "RNF145",
          "ensemblId": "ENSG00000145860",
          "biotype": "protein_coding",
          "start": 159154603,
          "end": 159210053,
          "strand": "-",
          "slug": "rnf145"
        },
        {
          "symbol": "UBLCP1",
          "ensemblId": "ENSG00000164332",
          "biotype": "protein_coding",
          "start": 159263072,
          "end": 159287721,
          "strand": "+",
          "slug": "ublcp1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "mendelian-susceptibility-to-mycobacterial-disease",
        "name": "Mendelsk mottaglighet för mykobakteriell sjukdom (MSMD)",
        "diseases": [
          {
            "mondoId": "MONDO:0019146",
            "name": "Mendelsk mottaglighet för mykobakteriell sjukdom",
            "genes": 8,
            "inheritance": null,
            "description": "Ärftliga defekter i IL-12/interferon-gamma-vägen, orsakade av gener såsom IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, ISG15 och RORC.",
            "management": "Drabbade personer och riskutsatta släktingar bör undvika BCG och andra levande vacciner, infektioner kräver långvarig behandling och vissa former svarar på interferon-gamma.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/mendelian-susceptibility-to-mycobacterial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-aortic-valve-morphology",
        "name": "Abnormal aortic valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-aortic-valve-morphology"
      },
      {
        "slug": "abnormal-endocardium-morphology",
        "name": "Abnormal endocardium morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-endocardium-morphology"
      },
      {
        "slug": "abnormal-heart-valve-morphology",
        "name": "Abnormal heart valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-heart-valve-morphology"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "absent-pulse",
        "name": "Absent pulse",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-pulse"
      },
      {
        "slug": "amaurosis-fugax",
        "name": "Amaurosis fugax",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amaurosis-fugax"
      },
      {
        "slug": "vascular-dilatation",
        "name": "Aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vascular-dilatation"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "asymmetric-blood-pressure-between-arms",
        "name": "Asymmetric blood pressure between arms",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/asymmetric-blood-pressure-between-arms"
      },
      {
        "slug": "bcgitis",
        "name": "BCGitis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bcgitis"
      },
      {
        "slug": "blood-pressure-substantially-higher-in-legs-than-arms",
        "name": "Blood pressure substantially higher in legs than arms",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blood-pressure-substantially-higher-in-legs-than-arms"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "ascending-tubular-aorta-aneurysm",
        "name": "Bulging of wall of large artery located above heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ascending-tubular-aorta-aneurysm"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "carotidynia",
        "name": "Carotidynia",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/carotidynia"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "gangrene",
        "name": "Death of body tissue due to lack of blood flow or infection",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gangrene"
      },
      {
        "slug": "gastrointestinal-infarctions",
        "name": "Death of digestive organ tissue due to poor blood supply",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-infarctions"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "cerebral-ischemia",
        "name": "Disruption of blood oxygen supply to brain",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-ischemia"
      },
      {
        "slug": "reduced-consciousness",
        "name": "Disturbances of consciousness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-consciousness"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "erythema-nodosum",
        "name": "Erythema nodosum",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/erythema-nodosum"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "myocardial-infarction",
        "name": "Heart attack",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myocardial-infarction"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "elevated-erythrocyte-sedimentation-rate",
        "name": "High ESR",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-erythrocyte-sedimentation-rate"
      },
      {
        "slug": "hypertensive-crisis",
        "name": "Hypertensive crisis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertensive-crisis"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "increased-inflammatory-response",
        "name": "Increased inflammatory response",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-inflammatory-response"
      },
      {
        "slug": "arteritis",
        "name": "Inflammation of artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arteritis"
      },
      {
        "slug": "vasculitis",
        "name": "Inflammation of blood vessel",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vasculitis"
      },
      {
        "slug": "intermittent-claudication",
        "name": "Intermittent claudication",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intermittent-claudication"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "malaise",
        "name": "Malaise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/malaise"
      },
      {
        "slug": "migraine",
        "name": "Migraine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/migraine"
      },
      {
        "slug": "transient-ischemic-attack",
        "name": "Mini stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/transient-ischemic-attack"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "arterial-stenosis",
        "name": "Narrowing of an artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arterial-stenosis"
      },
      {
        "slug": "renal-artery-stenosis",
        "name": "Narrowing of kidney artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-artery-stenosis"
      },
      {
        "slug": "night-sweats",
        "name": "Night sweats",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/night-sweats"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "ifngr1",
        "symbol": "IFNGR1",
        "name": "interferon gamma receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ifngr1"
      },
      {
        "slug": "il12rb1",
        "symbol": "IL12RB1",
        "name": "interleukin 12 receptor subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/il12rb1"
      },
      {
        "slug": "il23r",
        "symbol": "IL23R",
        "name": "interleukin 23 receptor",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/il23r"
      },
      {
        "slug": "irf8",
        "symbol": "IRF8",
        "name": "interferon regulatory factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/irf8"
      },
      {
        "slug": "isg15",
        "symbol": "ISG15",
        "name": "ISG15 ubiquitin like modifier",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/isg15"
      },
      {
        "slug": "rorc",
        "symbol": "RORC",
        "name": "RAR related orphan receptor C",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/rorc"
      },
      {
        "slug": "stat1",
        "symbol": "STAT1",
        "name": "signal transducer and activator of transcription 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/stat1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}