{
  "url": "https://dantelabs.com/sv/genes/nlrc4",
  "gene": {
    "slug": "nlrc4",
    "symbol": "NLRC4",
    "name": "NLR family CARD domain containing 4",
    "hgnc": "HGNC:16412",
    "summary": null,
    "location": "2p22.3",
    "locusType": "gene with protein product",
    "aliases": [
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      "ipaf",
      "CLANA",
      "CLANB",
      "CLANC",
      "CLAND",
      "CLR2.1",
      "CLAN"
    ],
    "previousSymbols": [
      "CARD12"
    ],
    "ensemblId": "ENSG00000091106",
    "entrezId": 58484,
    "omim": [
      "606831"
    ],
    "uniprot": [
      "Q9NPP4"
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      "release": "v1.5",
      "chrom": "2",
      "start": 32224453,
      "end": 32264886,
      "strand": "-",
      "ensemblTranscript": "ENST00000402280.6",
      "refseqTranscript": "NM_001199138.2",
      "ensemblProtein": "ENSP00000385428.1",
      "refseqProtein": "NP_001186067.1",
      "exons": [
        {
          "start": 32224453,
          "end": 32224765
        },
        {
          "start": 32235401,
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        {
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      ],
      "cds": {
        "start": 32224473,
        "end": 32256775
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 32449522,
      "end": 32490923,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 31744670,
      "end": 32744669,
      "genes": [
        {
          "symbol": "MEMO1",
          "ensemblId": "ENSG00000162959",
          "biotype": "protein_coding",
          "start": 31865060,
          "end": 32011230,
          "strand": "-",
          "slug": "memo1"
        },
        {
          "symbol": "DPY30",
          "ensemblId": "ENSG00000162961",
          "biotype": "protein_coding",
          "start": 31867809,
          "end": 32039832,
          "strand": "-",
          "slug": "dpy30"
        },
        {
          "symbol": "SPAST",
          "ensemblId": "ENSG00000021574",
          "biotype": "protein_coding",
          "start": 32063525,
          "end": 32157637,
          "strand": "+",
          "slug": "spast"
        },
        {
          "symbol": "SLC30A6",
          "ensemblId": "ENSG00000152683",
          "biotype": "protein_coding",
          "start": 32165841,
          "end": 32224802,
          "strand": "+",
          "slug": "slc30a6"
        },
        {
          "symbol": "YIPF4",
          "ensemblId": "ENSG00000119820",
          "biotype": "protein_coding",
          "start": 32277868,
          "end": 32320896,
          "strand": "+",
          "slug": "yipf4"
        },
        {
          "symbol": "BIRC6",
          "ensemblId": "ENSG00000115760",
          "biotype": "protein_coding",
          "start": 32357019,
          "end": 32619582,
          "strand": "+",
          "slug": "birc6"
        },
        {
          "symbol": "TTC27",
          "ensemblId": "ENSG00000018699",
          "biotype": "protein_coding",
          "start": 32628019,
          "end": 32821052,
          "strand": "+",
          "slug": "ttc27"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-periodic-fever-syndromes",
        "name": "Ärftliga periodiska febersyndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0016168",
            "name": "Kryopyrinassocierat periodiskt syndrom (CAPS)",
            "genes": 4,
            "inheritance": "autosomal-dominant",
            "description": "Ett spektrum av sjukdomar som främst orsakas av förändringar i NLRP3, från kyleutlösta utslag och feber till kronisk inflammation som påverkar hud, leder, hörsel och hjärna.",
            "management": "Behandling som blockerar interleukin-1 kontrollerar symtomen och hjälper till att förebygga hörselnedsättning och amyloidos.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/hereditary-periodic-fever-syndromes"
      },
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Sällsynta monogena autoinflammatoriska sjukdomar",
        "diseases": [
          {
            "mondoId": "MONDO:0014472",
            "name": "NLRC4-relaterad autoinflammatorisk sjukdom",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Återkommande feber, utslag och allvarlig enterokolit med debut i spädbarnsåldern, ibland med makrofagaktivering, orsakad av NLRC4-varianter med funktionsvinst.",
            "management": null,
            "evidence": {
              "gencc": [
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/rare-monogenic-autoinflammatory-diseases"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-natural-killer-cell-physiology",
        "name": "Abnormal natural killer cell physiology",
        "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/abnormal-natural-killer-cell-physiology"
      },
      {
        "slug": "diffuse-alveolar-hemorrhage",
        "name": "Diffuse alveolar hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diffuse-alveolar-hemorrhage"
      },
      {
        "slug": "disseminated-intravascular-coagulation",
        "name": "Disseminated intravascular coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/disseminated-intravascular-coagulation"
      },
      {
        "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": "increased-circulating-ferritin-concentration",
        "name": "Elevated serum ferritin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration"
      },
      {
        "slug": "enterocolitis",
        "name": "Enterocolitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/enterocolitis"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "episodic-vomiting",
        "name": "Episodic vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/episodic-vomiting"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "urticaria",
        "name": "Hives",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/urticaria"
      },
      {
        "slug": "hypofibrinogenemia",
        "name": "Hypofibrinogenemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/hypofibrinogenemia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "reduced-total-natural-killer-cell-count",
        "name": "Reduced total natural killer cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-total-natural-killer-cell-count"
      },
      {
        "slug": "secretory-diarrhea",
        "name": "Secretory diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/secretory-diarrhea"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "villous-atrophy",
        "name": "Villous atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/villous-atrophy"
      }
    ],
    "related": [
      {
        "slug": "nlrp12",
        "symbol": "NLRP12",
        "name": "NLR family pyrin domain containing 12",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/nlrp12"
      },
      {
        "slug": "nlrp3",
        "symbol": "NLRP3",
        "name": "NLR family pyrin domain containing 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/nlrp3"
      },
      {
        "slug": "plcg2",
        "symbol": "PLCG2",
        "name": "phospholipase C gamma 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/plcg2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}