{
  "url": "https://dantelabs.com/fi/genes/cr2",
  "gene": {
    "slug": "cr2",
    "symbol": "CR2",
    "name": "complement C3d receptor 2",
    "hgnc": "HGNC:2336",
    "summary": null,
    "location": "1q32.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CD21",
      "C3DR"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000117322",
    "entrezId": 1380,
    "omim": [
      "120650"
    ],
    "uniprot": [
      "P20023"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 207454328,
      "end": 207489892,
      "strand": "+",
      "ensemblTranscript": "ENST00000367057.8",
      "refseqTranscript": "NM_001006658.3",
      "ensemblProtein": "ENSP00000356024.3",
      "refseqProtein": "NP_001006659.1",
      "exons": [
        {
          "start": 207454328,
          "end": 207454476
        },
        {
          "start": 207466526,
          "end": 207466912
        },
        {
          "start": 207468527,
          "end": 207468715
        },
        {
          "start": 207468800,
          "end": 207468899
        },
        {
          "start": 207469150,
          "end": 207469232
        },
        {
          "start": 207469695,
          "end": 207470102
        },
        {
          "start": 207470740,
          "end": 207470916
        },
        {
          "start": 207470997,
          "end": 207471087
        },
        {
          "start": 207471423,
          "end": 207471499
        },
        {
          "start": 207472772,
          "end": 207473179
        },
        {
          "start": 207473545,
          "end": 207473721
        },
        {
          "start": 207473801,
          "end": 207473885
        },
        {
          "start": 207474241,
          "end": 207474323
        },
        {
          "start": 207474824,
          "end": 207475216
        },
        {
          "start": 207476234,
          "end": 207476419
        },
        {
          "start": 207477885,
          "end": 207478070
        },
        {
          "start": 207479257,
          "end": 207479280
        },
        {
          "start": 207479978,
          "end": 207480053
        },
        {
          "start": 207485464,
          "end": 207485572
        },
        {
          "start": 207489142,
          "end": 207489892
        }
      ],
      "cds": {
        "start": 207454419,
        "end": 207485554
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 207627575,
      "end": 207663240,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 206972110,
      "end": 207972109,
      "genes": [
        {
          "symbol": "C1orf116",
          "ensemblId": "ENSG00000182795",
          "biotype": "protein_coding",
          "start": 207018050,
          "end": 207032821,
          "strand": "-",
          "slug": "c1orf116"
        },
        {
          "symbol": "PFKFB2",
          "ensemblId": "ENSG00000123836",
          "biotype": "protein_coding",
          "start": 207034366,
          "end": 207081243,
          "strand": "+",
          "slug": "pfkfb2"
        },
        {
          "symbol": "YOD1",
          "ensemblId": "ENSG00000180667",
          "biotype": "protein_coding",
          "start": 207043849,
          "end": 207052980,
          "strand": "-",
          "slug": "yod1"
        },
        {
          "symbol": "C4BPB",
          "ensemblId": "ENSG00000123843",
          "biotype": "protein_coding",
          "start": 207088802,
          "end": 207100001,
          "strand": "+",
          "slug": "c4bpb"
        },
        {
          "symbol": "C4BPA",
          "ensemblId": "ENSG00000123838",
          "biotype": "protein_coding",
          "start": 207102319,
          "end": 207145047,
          "strand": "+",
          "slug": "c4bpa"
        },
        {
          "symbol": "CD55",
          "ensemblId": "ENSG00000196352",
          "biotype": "protein_coding",
          "start": 207321171,
          "end": 207386804,
          "strand": "+",
          "slug": "cd55"
        },
        {
          "symbol": "CR1",
          "ensemblId": "ENSG00000203710",
          "biotype": "protein_coding",
          "start": 207496147,
          "end": 207641776,
          "strand": "+",
          "slug": "cr1"
        },
        {
          "symbol": "CR1L",
          "ensemblId": "ENSG00000197721",
          "biotype": "protein_coding",
          "start": 207645113,
          "end": 207738416,
          "strand": "+",
          "slug": "cr1l"
        },
        {
          "symbol": "CD46",
          "ensemblId": "ENSG00000117335",
          "biotype": "protein_coding",
          "start": 207752037,
          "end": 207795516,
          "strand": "+",
          "slug": "cd46"
        },
        {
          "symbol": "CD34",
          "ensemblId": "ENSG00000174059",
          "biotype": "protein_coding",
          "start": 207880972,
          "end": 207911589,
          "strand": "-",
          "slug": "cd34"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "common-variable-immunodeficiency",
        "name": "Yleinen muuttuva immuunivajaus (monogeeninen CVID)",
        "diseases": [
          {
            "mondoId": "MONDO:0015517",
            "name": "Yleinen muuttuva immuunivajaus",
            "genes": 10,
            "inheritance": null,
            "description": "Matala IgG sekä matala IgA ja/tai IgM ja heikko rokotevaste; yksittäisen geenin muotoihin kuuluvat NFKB1, NFKB2, ICOS, CD19, CD81, CR2, IKZF1, IRF2BP2, SEC61A1 ja TNFRSF13B (TACI).",
            "management": "Immunoglobuliinikorvaushoito ja infektioiden varhainen hoito ovat vakiohoitoja; geneettinen syy voi ohjata seurantaa autoimmuunisairauksien, lymfooman ja keuhkosairauden varalta, ja jotkin muodot (kuten LRBA-puutos) reagoivat kohdennettuun hoitoon.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/common-variable-immunodeficiency"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Muut synnynnäiset immuunijärjestelmän häiriöt",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Perinnöllinen immuunipuutos",
            "genes": 114,
            "inheritance": null,
            "description": "Immuunijärjestelmän perinnölliset häiriöt, joita aiheuttavat yksittäisten geenien muutokset ja jotka vaikuttavat siihen, miten elimistö torjuu infektioita tai säätelee tulehdusta.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "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)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/immunodeficiency-disease"
      }
    ],
    "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": "neoplasm",
        "name": "Abnormal tissue mass",
        "systems": [],
        "url": "https://dantelabs.com/traits/neoplasm"
      },
      {
        "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": "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": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "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": "lymphoma",
        "name": "Cancer of lymphatic system",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/lymphoma"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "chronic-absent-circulating-igg4",
        "name": "Chronic absent circulating IgG4",
        "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/chronic-absent-circulating-igg4"
      },
      {
        "slug": "chronic-decreased-circulating-igg1-concentration",
        "name": "Chronic decreased circulating IgG1 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/chronic-decreased-circulating-igg1-concentration"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "combined-immunodeficiency",
        "name": "Combined immunodeficiency",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/combined-immunodeficiency"
      },
      {
        "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-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": "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": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-isohemagglutinin-concentration",
        "name": "Decreased circulating isohemagglutinin concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-isohemagglutinin-concentration"
      },
      {
        "slug": "decreased-circulating-specific-pneumococcal-antibody-concentration",
        "name": "Decreased circulating specific pneumococcal antibody concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-specific-pneumococcal-antibody-concentration"
      },
      {
        "slug": "decreased-circulating-total-igg-concentration",
        "name": "Decreased circulating total IgG 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-total-igg-concentration"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "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": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "follicular-hyperplasia",
        "name": "Follicular hyperplasia",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/follicular-hyperplasia"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "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": "abnormal-t-cell-physiology",
        "name": "Impaired T cell function",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-t-cell-physiology"
      },
      {
        "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": "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-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": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "oral-ulcer",
        "name": "Mouth sore",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oral-ulcer"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "partial-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide",
        "name": "Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/partial-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "cutaneous-photosensitivity",
        "name": "Photosensitive skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutaneous-photosensitivity"
      },
      {
        "slug": "conjunctivitis",
        "name": "Pink eye",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/conjunctivitis"
      },
      {
        "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": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-bronchitis",
        "name": "Recurrent bronchitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bronchitis"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-sinusitis",
        "name": "Recurrent sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-sinusitis"
      },
      {
        "slug": "serositis",
        "name": "Serositis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/serositis"
      },
      {
        "slug": "pharyngalgia",
        "name": "Sore throat",
        "systems": [
          "abnormality-of-the-respiratory-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pharyngalgia"
      },
      {
        "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": [
      {
        "slug": "cd19",
        "symbol": "CD19",
        "name": "CD19 molecule",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/cd19"
      },
      {
        "slug": "icos",
        "symbol": "ICOS",
        "name": "inducible T cell costimulator",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/icos"
      },
      {
        "slug": "ikzf1",
        "symbol": "IKZF1",
        "name": "IKAROS family zinc finger 1",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/ikzf1"
      },
      {
        "slug": "irf2bp2",
        "symbol": "IRF2BP2",
        "name": "interferon regulatory factor 2 binding protein 2",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/irf2bp2"
      },
      {
        "slug": "lrba",
        "symbol": "LRBA",
        "name": "LPS responsive beige-like anchor protein",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/lrba"
      },
      {
        "slug": "nfkb1",
        "symbol": "NFKB1",
        "name": "nuclear factor kappa B subunit 1",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/nfkb1"
      },
      {
        "slug": "nfkb2",
        "symbol": "NFKB2",
        "name": "nuclear factor kappa B subunit 2",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/nfkb2"
      },
      {
        "slug": "sec61a1",
        "symbol": "SEC61A1",
        "name": "SEC61 translocon subunit alpha 1",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/sec61a1"
      },
      {
        "slug": "tnfrsf13b",
        "symbol": "TNFRSF13B",
        "name": "TNF receptor superfamily member 13B",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/tnfrsf13b"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/bcl10"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}