{
  "url": "https://dantelabs.com/es/genes/tnfaip3",
  "gene": {
    "slug": "tnfaip3",
    "symbol": "TNFAIP3",
    "name": "TNF alpha induced protein 3",
    "hgnc": "HGNC:11896",
    "summary": null,
    "location": "6q23.3",
    "locusType": "gene with protein product",
    "aliases": [
      "A20",
      "OTUD7C"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000118503",
    "entrezId": 7128,
    "omim": [
      "191163"
    ],
    "uniprot": [
      "P21580"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 137867259,
      "end": 137883312,
      "strand": "+",
      "ensemblTranscript": "ENST00000612899.5",
      "refseqTranscript": "NM_001270508.2",
      "ensemblProtein": "ENSP00000481570.1",
      "refseqProtein": "NP_001257437.1",
      "exons": [
        {
          "start": 137867259,
          "end": 137867542
        },
        {
          "start": 137871213,
          "end": 137871522
        },
        {
          "start": 137874845,
          "end": 137875035
        },
        {
          "start": 137875688,
          "end": 137875835
        },
        {
          "start": 137875996,
          "end": 137876166
        },
        {
          "start": 137877076,
          "end": 137877256
        },
        {
          "start": 137878432,
          "end": 137879351
        },
        {
          "start": 137880071,
          "end": 137880252
        },
        {
          "start": 137881035,
          "end": 137883312
        }
      ],
      "cds": {
        "start": 137871228,
        "end": 137881319
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 138188351,
      "end": 138204449,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 137375286,
      "end": 138375285,
      "genes": [
        {
          "symbol": "OLIG3",
          "ensemblId": "ENSG00000177468",
          "biotype": "protein_coding",
          "start": 137492199,
          "end": 137494394,
          "strand": "-",
          "slug": "olig3"
        },
        {
          "symbol": "PERP",
          "ensemblId": "ENSG00000112378",
          "biotype": "protein_coding",
          "start": 138015003,
          "end": 138107848,
          "strand": "-",
          "slug": "perp"
        },
        {
          "symbol": "ARFGEF3",
          "ensemblId": "ENSG00000112379",
          "biotype": "protein_coding",
          "start": 138161692,
          "end": 138344663,
          "strand": "+",
          "slug": "arfgef3"
        },
        {
          "symbol": "PBOV1",
          "ensemblId": "ENSG00000254440",
          "biotype": "protein_coding",
          "start": 138215986,
          "end": 138218491,
          "strand": "-",
          "slug": "pbov1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Enfermedades autoinflamatorias monogénicas raras",
        "diseases": [
          {
            "mondoId": "MONDO:0800045",
            "name": "Haploinsuficiencia de A20 (HA20)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Enfermedad similar a la enfermedad de Behçet, con úlceras bucales y genitales, fiebre y autoinmunidad, causada por variantes en TNFAIP3.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/rare-monogenic-autoinflammatory-diseases"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pigmentation-of-the-oral-mucosa",
        "name": "Abnormal color of the oral mucosa",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pigmentation-of-the-oral-mucosa"
      },
      {
        "slug": "abnormality-of-salivation",
        "name": "Abnormality of salivation",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-salivation"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "anterior-uveitis",
        "name": "Anterior uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anterior-uveitis"
      },
      {
        "slug": "anti-complement-component-c1q-antibody-positivity",
        "name": "Anti-complement component C1q antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-complement-component-c1q-antibody-positivity"
      },
      {
        "slug": "anti-dsdna-antibody-positivity",
        "name": "Anti-dsDNA antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-dsdna-antibody-positivity"
      },
      {
        "slug": "anti-la-ss-b-antibody-positivity",
        "name": "Anti-La/SS-B antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-la-ss-b-antibody-positivity"
      },
      {
        "slug": "anti-nucleoporin-62-antibody-positivity",
        "name": "Anti-nucleoporin 62 antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-nucleoporin-62-antibody-positivity"
      },
      {
        "slug": "anti-phosphatidic-acid-antibody-positivity",
        "name": "Anti-phosphatidic acid antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-phosphatidic-acid-antibody-positivity"
      },
      {
        "slug": "anti-ribosome-po-antibody-positivity",
        "name": "Anti-ribosome Po antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-ribosome-po-antibody-positivity"
      },
      {
        "slug": "anti-ro52-trim21-antibody-positivity",
        "name": "Anti-Ro52/TRIM21 antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-ro52-trim21-antibody-positivity"
      },
      {
        "slug": "anti-sm-antibody-positivity",
        "name": "Anti-Sm antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-sm-antibody-positivity"
      },
      {
        "slug": "anti-titin-antibody-positivity",
        "name": "Anti-titin antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-titin-antibody-positivity"
      },
      {
        "slug": "anti-u1-ribonucleoprotein-antibody-positivity",
        "name": "Anti-U1 ribonucleoprotein antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-u1-ribonucleoprotein-antibody-positivity"
      },
      {
        "slug": "antineutrophil-antibody-positivity",
        "name": "Antineutrophil antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/antineutrophil-antibody-positivity"
      },
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "colitis",
        "name": "Colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/colitis"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-circulating-complement-c3-concentration",
        "name": "Decreased circulating complement C3 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-complement-c3-concentration"
      },
      {
        "slug": "decreased-circulating-complement-c4-concentration",
        "name": "Decreased circulating complement C4 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-complement-c4-concentration"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "discoid-lupus-rash",
        "name": "Discoid lupus rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/discoid-lupus-rash"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "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": "genital-ulcers",
        "name": "Genital ulcers",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/genital-ulcers"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hemolytic-anemia",
        "name": "Hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemolytic-anemia"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "pyuria",
        "name": "High urine neutrophil count",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pyuria"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "ileal-ulcer",
        "name": "Ileal ulcer",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ileal-ulcer"
      },
      {
        "slug": "cheilitis",
        "name": "Inflammation of the lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cheilitis"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "lupus-anticoagulant",
        "name": "Lupus anticoagulant",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lupus-anticoagulant"
      },
      {
        "slug": "lupus-nephritis",
        "name": "Lupus nephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lupus-nephritis"
      },
      {
        "slug": "malaise",
        "name": "Malaise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malaise"
      },
      {
        "slug": "malar-rash",
        "name": "Malar rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malar-rash"
      },
      {
        "slug": "oral-ulcer",
        "name": "Mouth sore",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oral-ulcer"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "cutaneous-photosensitivity",
        "name": "Photosensitive skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutaneous-photosensitivity"
      },
      {
        "slug": "polyarticular-arthritis",
        "name": "Polyarticular arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyarticular-arthritis"
      },
      {
        "slug": "raynaud-phenomenon",
        "name": "Raynaud phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/raynaud-phenomenon"
      },
      {
        "slug": "serositis",
        "name": "Serositis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/serositis"
      },
      {
        "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": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}