{
  "url": "https://dantelabs.com/sv/genes/il1rn",
  "gene": {
    "slug": "il1rn",
    "symbol": "IL1RN",
    "name": "interleukin 1 receptor antagonist",
    "hgnc": "HGNC:6000",
    "summary": null,
    "location": "2q14.1",
    "locusType": "gene with protein product",
    "aliases": [
      "IL1RA",
      "ICIL-1RA",
      "IL1F3",
      "IRAP",
      "IL-1RN",
      "MGC10430"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000136689",
    "entrezId": 3557,
    "omim": [
      "147679"
    ],
    "uniprot": [
      "P18510"
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 113127598,
      "end": 113134014,
      "strand": "+",
      "ensemblTranscript": "ENST00000409930.4",
      "refseqTranscript": "NM_173842.3",
      "ensemblProtein": "ENSP00000387173.3",
      "refseqProtein": "NP_776214.1",
      "exons": [
        {
          "start": 113127598,
          "end": 113127740
        },
        {
          "start": 113129576,
          "end": 113129664
        },
        {
          "start": 113131045,
          "end": 113131157
        },
        {
          "start": 113132656,
          "end": 113134014
        }
      ],
      "cds": {
        "start": 113127625,
        "end": 113132871
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 113864791,
      "end": 113891593,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 112630806,
      "end": 113630805,
      "genes": [
        {
          "symbol": "SLC20A1",
          "ensemblId": "ENSG00000144136",
          "biotype": "protein_coding",
          "start": 112645853,
          "end": 112664727,
          "strand": "+",
          "slug": "slc20a1"
        },
        {
          "symbol": "NT5DC4",
          "ensemblId": "ENSG00000144130",
          "biotype": "protein_coding",
          "start": 112721020,
          "end": 112742879,
          "strand": "+",
          "slug": "nt5dc4"
        },
        {
          "symbol": "CKAP2L",
          "ensemblId": "ENSG00000169607",
          "biotype": "protein_coding",
          "start": 112736349,
          "end": 112764664,
          "strand": "-",
          "slug": "ckap2l"
        },
        {
          "symbol": "IL1A",
          "ensemblId": "ENSG00000115008",
          "biotype": "protein_coding",
          "start": 112773916,
          "end": 112784500,
          "strand": "-",
          "slug": "il1a"
        },
        {
          "symbol": "IL1B",
          "ensemblId": "ENSG00000125538",
          "biotype": "protein_coding",
          "start": 112829750,
          "end": 112864235,
          "strand": "-",
          "slug": "il1b"
        },
        {
          "symbol": "IL37",
          "ensemblId": "ENSG00000125571",
          "biotype": "protein_coding",
          "start": 112911160,
          "end": 112918882,
          "strand": "+",
          "slug": "il37"
        },
        {
          "symbol": "IL36G",
          "ensemblId": "ENSG00000136688",
          "biotype": "protein_coding",
          "start": 112973203,
          "end": 112985672,
          "strand": "+",
          "slug": "il36g"
        },
        {
          "symbol": "IL36A",
          "ensemblId": "ENSG00000136694",
          "biotype": "protein_coding",
          "start": 113005459,
          "end": 113008044,
          "strand": "+",
          "slug": "il36a"
        },
        {
          "symbol": "IL36B",
          "ensemblId": "ENSG00000136696",
          "biotype": "protein_coding",
          "start": 113022089,
          "end": 113052867,
          "strand": "-",
          "slug": "il36b"
        },
        {
          "symbol": "IL36RN",
          "ensemblId": "ENSG00000136695",
          "biotype": "protein_coding",
          "start": 113058638,
          "end": 113065382,
          "strand": "+",
          "slug": "il36rn"
        },
        {
          "symbol": "IL38",
          "ensemblId": "ENSG00000136697",
          "biotype": "protein_coding",
          "start": 113067970,
          "end": 113075843,
          "strand": "+",
          "slug": "il38"
        },
        {
          "symbol": "PSD4",
          "ensemblId": "ENSG00000125637",
          "biotype": "protein_coding",
          "start": 113157325,
          "end": 113209396,
          "strand": "+",
          "slug": "psd4"
        },
        {
          "symbol": "PAX8",
          "ensemblId": "ENSG00000125618",
          "biotype": "protein_coding",
          "start": 113215997,
          "end": 113279001,
          "strand": "-",
          "slug": "pax8"
        },
        {
          "symbol": "ZNG1B",
          "ensemblId": "ENSG00000136682",
          "biotype": "protein_coding",
          "start": 113437691,
          "end": 113496204,
          "strand": "+",
          "slug": "zng1b"
        },
        {
          "symbol": "FOXD4L1",
          "ensemblId": "ENSG00000184492",
          "biotype": "protein_coding",
          "start": 113498665,
          "end": 113501150,
          "strand": "+",
          "slug": "foxd4l1"
        },
        {
          "symbol": "RABL2A",
          "ensemblId": "ENSG00000144134",
          "biotype": "protein_coding",
          "start": 113627215,
          "end": 113643407,
          "strand": "+",
          "slug": "rabl2a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Sällsynta monogena autoinflammatoriska sjukdomar",
        "diseases": [
          {
            "mondoId": "MONDO:0013021",
            "name": "Brist på IL-1-receptorantagonist (DIRA)",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Pustulärt hudutslag och benInflammation från födseln, orsakad av brist på IL1RN; sjukdomen svarar på behandling som blockerar IL-1.",
            "management": null,
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/rare-monogenic-autoinflammatory-diseases"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abscess",
        "name": "Abscess",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abscess"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "osteolysis",
        "name": "Breakdown of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteolysis"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "broad-ribs",
        "name": "Broad ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/broad-ribs"
      },
      {
        "slug": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "fetal-distress",
        "name": "Fetal distress",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fetal-distress"
      },
      {
        "slug": "flaring-of-rib-cage",
        "name": "Flaring of rib cage",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flaring-of-rib-cage"
      },
      {
        "slug": "fused-cervical-vertebrae",
        "name": "Fused neck",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fused-cervical-vertebrae"
      },
      {
        "slug": "elevated-erythrocyte-sedimentation-rate",
        "name": "High ESR",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-erythrocyte-sedimentation-rate"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "increased-total-neutrophil-count",
        "name": "Increased blood neutrophil counts",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-total-neutrophil-count"
      },
      {
        "slug": "increased-level-of-l-fucose-in-urine",
        "name": "Increased level of L-fucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-l-fucose-in-urine"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "stomatitis",
        "name": "Inflammation of the mouth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/stomatitis"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "joint-swelling",
        "name": "Joint swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/joint-swelling"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "periostitis",
        "name": "Periostitis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/periostitis"
      },
      {
        "slug": "pustule",
        "name": "Pimple",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pustule"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "stomach-cancer",
        "name": "Stomach cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/stomach-cancer"
      },
      {
        "slug": "epidermal-acanthosis",
        "name": "Thickening of upper layer of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epidermal-acanthosis"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}