{
  "url": "https://dantelabs.com/et/genes/stxbp2",
  "gene": {
    "slug": "stxbp2",
    "symbol": "STXBP2",
    "name": "syntaxin binding protein 2",
    "hgnc": "HGNC:11445",
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    "location": "19p13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "UNC18B",
      "Hunc18b",
      "Unc18-2",
      "MUNC18-2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000076944",
    "entrezId": 6813,
    "omim": [
      "601717"
    ],
    "uniprot": [
      "Q15833"
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      "refseqTranscript": "NM_006949.4",
      "ensemblProtein": "ENSP00000221283.4",
      "refseqProtein": "NP_008880.2",
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      "build": "GRCh37",
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        {
          "symbol": "INSR",
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        {
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        {
          "symbol": "PEX11G",
          "ensemblId": "ENSG00000104883",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "pex11g"
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        {
          "symbol": "SAXO5",
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          "biotype": "protein_coding",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000267952",
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        {
          "symbol": "ZNF358",
          "ensemblId": "ENSG00000198816",
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        {
          "symbol": "MCOLN1",
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        {
          "symbol": "",
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        {
          "symbol": "PNPLA6",
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          "slug": "pnpla6"
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        {
          "symbol": "CAMSAP3",
          "ensemblId": "ENSG00000076826",
          "biotype": "protein_coding",
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        {
          "symbol": "XAB2",
          "ensemblId": "ENSG00000076924",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "xab2"
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        {
          "symbol": "PET100",
          "ensemblId": "ENSG00000229833",
          "biotype": "protein_coding",
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        {
          "symbol": "",
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        {
          "symbol": "PCP2",
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          "biotype": "protein_coding",
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        {
          "symbol": "RETN",
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          "biotype": "protein_coding",
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        {
          "symbol": "MCEMP1",
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          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "",
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        },
        {
          "symbol": "TRAPPC5",
          "ensemblId": "ENSG00000181029",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "trappc5"
        },
        {
          "symbol": "FCER2",
          "ensemblId": "ENSG00000104921",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fcer2"
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        {
          "symbol": "CLEC4G",
          "ensemblId": "ENSG00000182566",
          "biotype": "protein_coding",
          "start": 7728943,
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          "slug": "clec4g"
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        {
          "symbol": "",
          "ensemblId": "ENSG00000288669",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "CD209",
          "ensemblId": "ENSG00000090659",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "cd209"
        },
        {
          "symbol": "CLEC4M",
          "ensemblId": "ENSG00000104938",
          "biotype": "protein_coding",
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          "end": 7769606,
          "strand": "+",
          "slug": "clec4m"
        },
        {
          "symbol": "EVI5L",
          "ensemblId": "ENSG00000142459",
          "biotype": "protein_coding",
          "start": 7830182,
          "end": 7864980,
          "strand": "+",
          "slug": "evi5l"
        },
        {
          "symbol": "PRR36",
          "ensemblId": "ENSG00000183248",
          "biotype": "protein_coding",
          "start": 7868719,
          "end": 7874674,
          "strand": "-",
          "slug": "prr36"
        },
        {
          "symbol": "LRRC8E",
          "ensemblId": "ENSG00000171017",
          "biotype": "protein_coding",
          "start": 7888500,
          "end": 7902021,
          "strand": "+",
          "slug": "lrrc8e"
        },
        {
          "symbol": "MAP2K7",
          "ensemblId": "ENSG00000076984",
          "biotype": "protein_coding",
          "start": 7903823,
          "end": 7914480,
          "strand": "+",
          "slug": "map2k7"
        },
        {
          "symbol": "TGFBR3L",
          "ensemblId": "ENSG00000260001",
          "biotype": "protein_coding",
          "start": 7914760,
          "end": 7919097,
          "strand": "+",
          "slug": "tgfbr3l"
        },
        {
          "symbol": "SNAPC2",
          "ensemblId": "ENSG00000104976",
          "biotype": "protein_coding",
          "start": 7920314,
          "end": 7923250,
          "strand": "+",
          "slug": "snapc2"
        },
        {
          "symbol": "CTXN1",
          "ensemblId": "ENSG00000178531",
          "biotype": "protein_coding",
          "start": 7924491,
          "end": 7926174,
          "strand": "-",
          "slug": "ctxn1"
        },
        {
          "symbol": "TIMM44",
          "ensemblId": "ENSG00000104980",
          "biotype": "protein_coding",
          "start": 7926715,
          "end": 7943773,
          "strand": "-",
          "slug": "timm44"
        },
        {
          "symbol": "ELAVL1",
          "ensemblId": "ENSG00000066044",
          "biotype": "protein_coding",
          "start": 7958573,
          "end": 8006062,
          "strand": "-",
          "slug": "elavl1"
        },
        {
          "symbol": "CCL25",
          "ensemblId": "ENSG00000131142",
          "biotype": "protein_coding",
          "start": 8052293,
          "end": 8062665,
          "strand": "+",
          "slug": "ccl25"
        },
        {
          "symbol": "FBN3",
          "ensemblId": "ENSG00000142449",
          "biotype": "protein_coding",
          "start": 8065402,
          "end": 8149693,
          "strand": "-",
          "slug": "fbn3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-hemophagocytic-lymphohistiocytosis",
        "name": "Perekondlik hemofagotsütaarne lümfohistiotsütoos",
        "diseases": [
          {
            "mondoId": "MONDO:0013135",
            "name": "Perekondlik hemofagotsütaarne lümfohistiotsütoos 5. tüüp (STXBP2)",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Põhjustatud STXBP2 geeni muutustest, mis toimib koos STX11-ga immuunrakkude tapmisgraanulite sisu vabastamisel.",
            "management": "Varane äratundmine võimaldab kiiret ravi ja kõdurakkude siirdamise planeerimist, mis on ainus ravi.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/familial-hemophagocytic-lymphohistiocytosis"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Ostali pärilikud immuunpuudulikkused",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Pärilik immuunpuudulikkus",
            "genes": 114,
            "inheritance": null,
            "description": "Pärilikud immuunsüsteemi häired, mis on põhjustatud üksikute geenide muutustest ning mõjutavad seda, kuidas organism infektsioonidega võitleb või põletikku reguleerib.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/et/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "abnormal-circulating-cytokine-concentration",
        "name": "Abnormal circulating cytokine concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-cytokine-concentration"
      },
      {
        "slug": "abnormal-renal-physiology",
        "name": "Abnormal kidney function",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-renal-physiology"
      },
      {
        "slug": "abnormal-natural-killer-cell-physiology",
        "name": "Abnormal natural killer cell physiology",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-natural-killer-cell-physiology"
      },
      {
        "slug": "abnormal-skin-morphology",
        "name": "Abnormal skin structure",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-skin-morphology"
      },
      {
        "slug": "abnormal-pulmonary-interstitial-morphology",
        "name": "Abnormality in area between air sacs in lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-pulmonary-interstitial-morphology"
      },
      {
        "slug": "abnormality-of-multiple-cell-lineages-in-the-bone-marrow",
        "name": "Abnormality of multiple cell lineages in the bone marrow",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-multiple-cell-lineages-in-the-bone-marrow"
      },
      {
        "slug": "abnormality-of-the-coagulation-cascade",
        "name": "Abnormality of the coagulation cascade",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-coagulation-cascade"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "abnormality-of-the-respiratory-system",
        "name": "Abnormality of the respiratory system",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-respiratory-system"
      },
      {
        "slug": "abnormality-of-tumor-necrosis-factor-secretion",
        "name": "Abnormality of tumor necrosis factor secretion",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-tumor-necrosis-factor-secretion"
      },
      {
        "slug": "purpura",
        "name": "Blood spots",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/purpura"
      },
      {
        "slug": "infectious-encephalitis",
        "name": "Brain inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infectious-encephalitis"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "cholestatic-liver-disease",
        "name": "Cholestatic liver disease",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholestatic-liver-disease"
      },
      {
        "slug": "colitis",
        "name": "Colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/colitis"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "csf-pleocytosis",
        "name": "CSF pleocytosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/csf-pleocytosis"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "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-immunoglobulin-concentration"
      },
      {
        "slug": "decreased-liver-function",
        "name": "Decreased liver function",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-liver-function"
      },
      {
        "slug": "ecchymosis",
        "name": "Ecchymosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ecchymosis"
      },
      {
        "slug": "increased-circulating-ferritin-concentration",
        "name": "Elevated serum ferritin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "functional-motor-deficit",
        "name": "Functional motor deficit",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/functional-motor-deficit"
      },
      {
        "slug": "hemophagocytosis",
        "name": "Hemophagocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hemophagocytosis"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hypofibrinogenemia",
        "name": "Hypofibrinogenemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypofibrinogenemia"
      },
      {
        "slug": "immune-dysregulation",
        "name": "Immune dysregulation",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/immune-dysregulation"
      },
      {
        "slug": "increased-circulating-interferon-gamma-concentration",
        "name": "Increased circulating interferon-gamma concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-interferon-gamma-concentration"
      },
      {
        "slug": "increased-circulating-interleukin-6-concentration",
        "name": "Increased circulating interleukin 6 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-interleukin-6-concentration"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "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": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "low-frequency-sensorineural-hearing-impairment",
        "name": "Low-frequency sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-frequency-sensorineural-hearing-impairment"
      },
      {
        "slug": "maculopapular-exanthema",
        "name": "Maculopapular exanthema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/maculopapular-exanthema"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "petechiae",
        "name": "Petechiae",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/petechiae"
      },
      {
        "slug": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-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": "erythroderma",
        "name": "Red scaly skin caused by inflammatory skin disease",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erythroderma"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      }
    ],
    "related": [
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/adar"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/aicda"
      },
      {
        "slug": "ap3b1",
        "symbol": "AP3B1",
        "name": "adaptor related protein complex 3 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ap3b1"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/blnk"
      },
      {
        "slug": "bloc1s6",
        "symbol": "BLOC1S6",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/bloc1s6"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/c1qa"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/c1qb"
      },
      {
        "slug": "c1qc",
        "symbol": "C1QC",
        "name": "complement C1q C chain",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/c1qc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}