{
  "url": "https://dantelabs.com/fr/genes/ptpn2",
  "gene": {
    "slug": "ptpn2",
    "symbol": "PTPN2",
    "name": "protein tyrosine phosphatase non-receptor type 2",
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    "uniprot": [
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      "strand": "-",
      "ensemblTranscript": "ENST00000309660.10",
      "refseqTranscript": "NM_002828.4",
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      "refseqProtein": "NP_002819.2",
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    },
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      "genes": [
        {
          "symbol": "TUBB6",
          "ensemblId": "ENSG00000176014",
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          "end": 12345784,
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          "slug": "tubb6"
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        {
          "symbol": "AFG3L2",
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          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "PRELID3A",
          "ensemblId": "ENSG00000141391",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
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          "biotype": "protein_coding",
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          "slug": "spire1"
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        {
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          "strand": "+",
          "slug": "psmg2"
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        {
          "symbol": "CEP76",
          "ensemblId": "ENSG00000101624",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "cep76"
        },
        {
          "symbol": "SEH1L",
          "ensemblId": "ENSG00000085415",
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          "end": 12987713,
          "strand": "+",
          "slug": "seh1l"
        },
        {
          "symbol": "CEP192",
          "ensemblId": "ENSG00000101639",
          "biotype": "protein_coding",
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          "end": 13125053,
          "strand": "+",
          "slug": "cep192"
        },
        {
          "symbol": "LDLRAD4",
          "ensemblId": "ENSG00000168675",
          "biotype": "protein_coding",
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          "end": 13652755,
          "strand": "+",
          "slug": "ldlrad4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Maladies auto-inflammatoires monogéniques rares",
        "diseases": [
          {
            "mondoId": "MONDO:0957018",
            "name": "Auto-inflammation et auto-immunité liées à PTPN2",
            "genes": 22,
            "inheritance": "autosomal-dominant",
            "description": "Maladie inflammatoire et auto-immune à début précoce, notamment colite et arthrite, causée par des variants de PTPN2.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/rare-monogenic-autoinflammatory-diseases"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-cervical-spine",
        "name": "Abnormal cervical spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-cervical-spine"
      },
      {
        "slug": "abnormal-circulating-interleukin-concentration",
        "name": "Abnormal circulating interleukin concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-interleukin-concentration"
      },
      {
        "slug": "abnormality-of-the-ankle",
        "name": "Abnormality of the ankle",
        "systems": [
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          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-ankle"
      },
      {
        "slug": "abnormality-of-the-hand",
        "name": "Abnormality of the hand",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-hand"
      },
      {
        "slug": "abnormal-hip-joint-morphology",
        "name": "Abnormality of the hip joint",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-hip-joint-morphology"
      },
      {
        "slug": "abnormality-of-the-temporomandibular-joint",
        "name": "Abnormality of the jaw joint",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-temporomandibular-joint"
      },
      {
        "slug": "abnormal-metacarpophalangeal-joint-morphology",
        "name": "Abnormality of the knuckle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-metacarpophalangeal-joint-morphology"
      },
      {
        "slug": "abnormal-metatarsal-morphology",
        "name": "Abnormality of the long bone of foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-metatarsal-morphology"
      },
      {
        "slug": "abnormal-shoulder-morphology",
        "name": "Abnormality of the shoulder",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-shoulder-morphology"
      },
      {
        "slug": "abnormality-of-the-wrist",
        "name": "Abnormality of the wrist",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-wrist"
      },
      {
        "slug": "ankle-swelling",
        "name": "Ankle swelling",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ankle-swelling"
      },
      {
        "slug": "anterior-chamber-synechiae",
        "name": "Anterior chamber synechiae",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anterior-chamber-synechiae"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "band-keratopathy",
        "name": "Band keratopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/band-keratopathy"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "enthesitis",
        "name": "Enthesitis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enthesitis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "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": "hip-osteoarthritis",
        "name": "Hip osteoarthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-osteoarthritis"
      },
      {
        "slug": "increased-circulating-interferon-gamma-concentration",
        "name": "Increased circulating interferon-gamma concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-interferon-gamma-concentration"
      },
      {
        "slug": "iridocyclitis",
        "name": "Iridocyclitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/iridocyclitis"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "joint-swelling",
        "name": "Joint swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-swelling"
      },
      {
        "slug": "knee-osteoarthritis",
        "name": "Knee osteoarthritis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/knee-osteoarthritis"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "low-grade-fever",
        "name": "Low-grade fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-grade-fever"
      },
      {
        "slug": "mild-postnatal-growth-retardation",
        "name": "Mild growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-postnatal-growth-retardation"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "oligoarthritis",
        "name": "Oligoarthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/oligoarthritis"
      },
      {
        "slug": "rheumatoid-arthritis",
        "name": "Rheumatoid arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rheumatoid-arthritis"
      },
      {
        "slug": "severe-postnatal-growth-retardation",
        "name": "Severe growth delay in children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-postnatal-growth-retardation"
      },
      {
        "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": "synovial-lining-hyperplasia",
        "name": "Synovial lining hyperplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/synovial-lining-hyperplasia"
      },
      {
        "slug": "synovitis",
        "name": "Synovitis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/synovitis"
      },
      {
        "slug": "uveitis",
        "name": "Uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/uveitis"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "acp5",
        "symbol": "ACP5",
        "name": "acid phosphatase 5, tartrate resistant",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/acp5"
      },
      {
        "slug": "ada2",
        "symbol": "ADA2",
        "name": "adenosine deaminase 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ada2"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/adar"
      },
      {
        "slug": "copa",
        "symbol": "COPA",
        "name": "coat protein complex I subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/copa"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ifih1"
      },
      {
        "slug": "pola1",
        "symbol": "POLA1",
        "name": "DNA polymerase alpha 1, catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/pola1"
      },
      {
        "slug": "pomp",
        "symbol": "POMP",
        "name": "proteasome maturation protein",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/pomp"
      },
      {
        "slug": "psmb10",
        "symbol": "PSMB10",
        "name": "proteasome 20S subunit beta 10",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/psmb10"
      },
      {
        "slug": "psmb8",
        "symbol": "PSMB8",
        "name": "proteasome 20S subunit beta 8",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/psmb8"
      },
      {
        "slug": "psmb9",
        "symbol": "PSMB9",
        "name": "proteasome 20S subunit beta 9",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/psmb9"
      },
      {
        "slug": "rigi",
        "symbol": "RIGI",
        "name": "RNA sensor RIG-I",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/rigi"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "name": "ribonuclease H2 subunit A",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/rnaseh2a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}