{
  "url": "https://dantelabs.com/fi/genes/il2ra",
  "gene": {
    "slug": "il2ra",
    "symbol": "IL2RA",
    "name": "interleukin 2 receptor subunit alpha",
    "hgnc": "HGNC:6008",
    "summary": null,
    "location": "10p15.1",
    "locusType": "gene with protein product",
    "aliases": [
      "CD25"
    ],
    "previousSymbols": [
      "IL2R",
      "IDDM10"
    ],
    "ensemblId": "ENSG00000134460",
    "entrezId": 3559,
    "omim": [
      "147730"
    ],
    "uniprot": [
      "P01589"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 6010689,
      "end": 6062367,
      "strand": "-",
      "ensemblTranscript": "ENST00000379959.8",
      "refseqTranscript": "NM_000417.3",
      "ensemblProtein": "ENSP00000369293.3",
      "refseqProtein": "NP_000408.1",
      "exons": [
        {
          "start": 6010689,
          "end": 6012896
        },
        {
          "start": 6018053,
          "end": 6018119
        },
        {
          "start": 6019428,
          "end": 6019499
        },
        {
          "start": 6019870,
          "end": 6019941
        },
        {
          "start": 6021478,
          "end": 6021693
        },
        {
          "start": 6024244,
          "end": 6024354
        },
        {
          "start": 6025834,
          "end": 6026025
        },
        {
          "start": 6062088,
          "end": 6062367
        }
      ],
      "cds": {
        "start": 6012872,
        "end": 6062151
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 6052652,
      "end": 6104288,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 5536528,
      "end": 6536527,
      "genes": [
        {
          "symbol": "ASB13",
          "ensemblId": "ENSG00000196372",
          "biotype": "protein_coding",
          "start": 5638856,
          "end": 5666627,
          "strand": "-",
          "slug": "asb13"
        },
        {
          "symbol": "TASOR2",
          "ensemblId": "ENSG00000108021",
          "biotype": "protein_coding",
          "start": 5684731,
          "end": 5765722,
          "strand": "+",
          "slug": "tasor2"
        },
        {
          "symbol": "GDI2",
          "ensemblId": "ENSG00000057608",
          "biotype": "protein_coding",
          "start": 5763583,
          "end": 5842132,
          "strand": "-",
          "slug": "gdi2"
        },
        {
          "symbol": "ANKRD16",
          "ensemblId": "ENSG00000134461",
          "biotype": "protein_coding",
          "start": 5860934,
          "end": 5889994,
          "strand": "-",
          "slug": "ankrd16"
        },
        {
          "symbol": "FBH1",
          "ensemblId": "ENSG00000134452",
          "biotype": "protein_coding",
          "start": 5890164,
          "end": 5937624,
          "strand": "+",
          "slug": "fbh1"
        },
        {
          "symbol": "IL15RA",
          "ensemblId": "ENSG00000134470",
          "biotype": "protein_coding",
          "start": 5943505,
          "end": 5978187,
          "strand": "-",
          "slug": "il15ra"
        },
        {
          "symbol": "RBM17",
          "ensemblId": "ENSG00000134453",
          "biotype": "protein_coding",
          "start": 6086898,
          "end": 6117457,
          "strand": "+",
          "slug": "rbm17"
        },
        {
          "symbol": "PFKFB3",
          "ensemblId": "ENSG00000170525",
          "biotype": "protein_coding",
          "start": 6144885,
          "end": 6254644,
          "strand": "+",
          "slug": "pfkfb3"
        },
        {
          "symbol": "PRKCQ",
          "ensemblId": "ENSG00000065675",
          "biotype": "protein_coding",
          "start": 6427136,
          "end": 6580855,
          "strand": "-",
          "slug": "prkcq"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabetes mellitus",
            "genes": 31,
            "inheritance": null,
            "description": "Metabolinen sairaus, jolle on ominaista poikkeuksellisen korkea verensokeri. Sen taustalla on insuliinin tuotannon väheneminen tai insuliiniresistenssi ja herkistymisen heikentyminen.",
            "management": "Teplizumabi (Tzield) vaiheen 2 oireettoman tyypin 1 diabeteksen hoitoon (FDA:n hyväksymä vuonna 2022); insuliinikorvaushoito kliinisen tyypin 1 diabeteksen alkaessa; TrialNet-vasta-aineseulonta suuren riskin sukulaisille; suljetun kierron insuliininantojärjestelmät",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/diabetes-mellitus"
      },
      {
        "slug": "ipex-and-tregopathies",
        "name": "IPEX-oireyhtymä ja muut tregopatiat",
        "diseases": [
          {
            "mondoId": "MONDO:0011664",
            "name": "CD25-puutos (IL2RA)",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "IPEX-tyyppinen sairaus, jossa esiintyy autoimmuniteettia, enteropatiaa ja infektioita. Sen aiheuttavat IL2RA-geenin molempien kopioiden muutokset.",
            "management": "Käytetään immunosuppressiivista hoitoa ja kantasolusiirtoa.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/ipex-and-tregopathies"
      },
      {
        "slug": "neonatal-diabetes-mellitus",
        "name": "Vastasyntyneen diabetes mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0016391",
            "name": "Vastasyntyneen diabetes mellitus",
            "genes": 20,
            "inheritance": null,
            "description": "Diabetes, joka todetaan elämän ensimmäisinä kuukausina ja joka voi olla joko pysyvä tai ohimenevä. Sen aiheuttavat yhden geenin viat insuliinin tuotannossa tai erityksessä.",
            "management": "Useimmat KCNJ11- tai ABCC8-geenin aiheuttamaa vastasyntyneen diabetesta sairastavat voivat siirtyä insuliinipistoksista sulfonyyliureatabletteihin, ja verensokerin hallinta on usein parempaa.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/neonatal-diabetes-mellitus"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Muut synnynnäiset immuunijärjestelmän häiriöt",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Immuunipuutossairaus",
            "genes": 170,
            "inheritance": null,
            "description": "Sairaus, jossa immuniteettimekanismeissa on puutetta tai vikaa, joko solullisessa tai humoraalisessa immuniteetissa.",
            "management": "HSCT vakavan yhdistelmäimmuunipuutoksen (SCID) ja vakavien primaaristen immuunipuutosten hoitoon; immunoglobuliinikorvaushoito (IVIG/SCIG) vasta-ainepuutoksiin; leniolisib (Joenja, FDA 2023) APDS-oireyhtymään; geenihoito ADA-SCID-tautiin; abatasepti CTLA4- ja LRBA-puutoksiin; profylaktiset antibiootit; G-CSF krooniseen granulomatoottiseen sairauteen (CGD)",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/immunodeficiency-disease"
      }
    ],
    "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": [
          "abnormality-of-limbs",
          "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": "alopecia-universalis",
        "name": "Alopecia universalis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/alopecia-universalis"
      },
      {
        "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": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "band-keratopathy",
        "name": "Band keratopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/band-keratopathy"
      },
      {
        "slug": "concave-nasal-ridge",
        "name": "Boxer's nasal deformity",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/concave-nasal-ridge"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "recurrent-oral-thrush",
        "name": "Chronic oral thrush",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-oral-thrush"
      },
      {
        "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": "decreased-anti-cd3-28-induced-t-cell-proliferation",
        "name": "Decreased anti-CD3/28-induced T-cell proliferation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-anti-cd3-28-induced-t-cell-proliferation"
      },
      {
        "slug": "decreased-circulating-iga-concentration",
        "name": "Decreased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration"
      },
      {
        "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": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "decreased-regulatory-t-cell-proportion",
        "name": "Decreased regulatory T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-regulatory-t-cell-proportion"
      },
      {
        "slug": "decreased-specific-anti-polysaccharide-antibody-concentration",
        "name": "Decreased specific anti-polysaccharide antibody concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-specific-anti-polysaccharide-antibody-concentration"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "enlarged-tonsils",
        "name": "Enlarged tonsils",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enlarged-tonsils"
      },
      {
        "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": "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": "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": "hemolytic-anemia",
        "name": "Hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hemolytic-anemia"
      },
      {
        "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-ige-concentration",
        "name": "Increased circulating IgE concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-ige-concentration"
      },
      {
        "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": "inverted-cd4-cd8-ratio",
        "name": "Inverted CD4:CD8 ratio",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inverted-cd4-cd8-ratio"
      },
      {
        "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": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "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": "decreased-total-t-cell-count",
        "name": "Low T cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-t-cell-count"
      },
      {
        "slug": "low-grade-fever",
        "name": "Low-grade fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-grade-fever"
      },
      {
        "slug": "pulmonary-infiltrates",
        "name": "Lung infiltrates",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-infiltrates"
      },
      {
        "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": "patchy-alopecia",
        "name": "Patchy baldness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/patchy-alopecia"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "psoriasiform-dermatitis",
        "name": "Psoriasiform dermatitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/psoriasiform-dermatitis"
      },
      {
        "slug": "pulmonary-interstitial-lymphocyte-infiltration",
        "name": "Pulmonary interstitial lymphocyte infiltration",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-interstitial-lymphocyte-infiltration"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-fungal-infections",
        "name": "Recurrent fungal infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fungal-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-viral-infections",
        "name": "Recurrent viral infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-viral-infections"
      },
      {
        "slug": "erythroderma",
        "name": "Red scaly skin caused by inflammatory skin disease",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythroderma"
      },
      {
        "slug": "rheumatoid-arthritis",
        "name": "Rheumatoid arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rheumatoid-arthritis"
      },
      {
        "slug": "scaling-skin",
        "name": "Scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scaling-skin"
      },
      {
        "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": "severe-varicella-zoster-infection",
        "name": "Severe varicella zoster infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-varicella-zoster-infection"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "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": "thyroiditis",
        "name": "Thyroid gland inflammation",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thyroiditis"
      },
      {
        "slug": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "uveitis",
        "name": "Uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/uveitis"
      },
      {
        "slug": "villous-atrophy",
        "name": "Villous atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/villous-atrophy"
      },
      {
        "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": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/abcc8"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/bscl2"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/eif2b1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "name": "GATA binding protein 6",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/gata6"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/gck"
      },
      {
        "slug": "glis3",
        "symbol": "GLIS3",
        "name": "GLIS family zinc finger 3",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/glis3"
      },
      {
        "slug": "hnf1b",
        "symbol": "HNF1B",
        "name": "HNF1 homeobox B",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/hnf1b"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "name": "insulin",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ins"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/kcnj11"
      },
      {
        "slug": "mnx1",
        "symbol": "MNX1",
        "name": "motor neuron and pancreas homeobox 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/mnx1"
      },
      {
        "slug": "neurod1",
        "symbol": "NEUROD1",
        "name": "neuronal differentiation 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/neurod1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}