{
  "url": "https://dantelabs.com/et/genes/prf1",
  "gene": {
    "slug": "prf1",
    "symbol": "PRF1",
    "name": "perforin 1",
    "hgnc": "HGNC:9360",
    "summary": null,
    "location": "10q22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "PFP",
      "P1",
      "HPLH2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000180644",
    "entrezId": 5551,
    "omim": [
      "170280"
    ],
    "uniprot": [
      "P14222"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 70597348,
      "end": 70602741,
      "strand": "-",
      "ensemblTranscript": "ENST00000441259.2",
      "refseqTranscript": "NM_001083116.3",
      "ensemblProtein": "ENSP00000398568.1",
      "refseqProtein": "NP_001076585.1",
      "exons": [
        {
          "start": 70597348,
          "end": 70599181
        },
        {
          "start": 70600364,
          "end": 70600932
        },
        {
          "start": 70602645,
          "end": 70602741
        }
      ],
      "cds": {
        "start": 70598053,
        "end": 70600902
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 72357104,
      "end": 72362531,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 70100045,
      "end": 71100044,
      "genes": [
        {
          "symbol": "MACROH2A2",
          "ensemblId": "ENSG00000099284",
          "biotype": "protein_coding",
          "start": 70052544,
          "end": 70112282,
          "strand": "+",
          "slug": "macroh2a2"
        },
        {
          "symbol": "AIFM2",
          "ensemblId": "ENSG00000042286",
          "biotype": "protein_coding",
          "start": 70054661,
          "end": 70133269,
          "strand": "-",
          "slug": "aifm2"
        },
        {
          "symbol": "TYSND1",
          "ensemblId": "ENSG00000156521",
          "biotype": "protein_coding",
          "start": 70137978,
          "end": 70146720,
          "strand": "-",
          "slug": "tysnd1"
        },
        {
          "symbol": "SAR1A",
          "ensemblId": "ENSG00000079332",
          "biotype": "protein_coding",
          "start": 70147289,
          "end": 70186284,
          "strand": "-",
          "slug": "sar1a"
        },
        {
          "symbol": "PPA1",
          "ensemblId": "ENSG00000180817",
          "biotype": "protein_coding",
          "start": 70202831,
          "end": 70233911,
          "strand": "-",
          "slug": "ppa1"
        },
        {
          "symbol": "NPFFR1",
          "ensemblId": "ENSG00000148734",
          "biotype": "protein_coding",
          "start": 70247329,
          "end": 70284011,
          "strand": "-",
          "slug": "npffr1"
        },
        {
          "symbol": "LRRC20",
          "ensemblId": "ENSG00000172731",
          "biotype": "protein_coding",
          "start": 70298970,
          "end": 70382650,
          "strand": "-",
          "slug": "lrrc20"
        },
        {
          "symbol": "EIF4EBP2",
          "ensemblId": "ENSG00000148730",
          "biotype": "protein_coding",
          "start": 70404130,
          "end": 70428618,
          "strand": "+",
          "slug": "eif4ebp2"
        },
        {
          "symbol": "NODAL",
          "ensemblId": "ENSG00000156574",
          "biotype": "protein_coding",
          "start": 70431936,
          "end": 70447951,
          "strand": "-",
          "slug": "nodal"
        },
        {
          "symbol": "PALD1",
          "ensemblId": "ENSG00000107719",
          "biotype": "protein_coding",
          "start": 70477658,
          "end": 70668754,
          "strand": "+",
          "slug": "pald1"
        },
        {
          "symbol": "ADAMTS14",
          "ensemblId": "ENSG00000138316",
          "biotype": "protein_coding",
          "start": 70672367,
          "end": 70762441,
          "strand": "+",
          "slug": "adamts14"
        },
        {
          "symbol": "TBATA",
          "ensemblId": "ENSG00000166220",
          "biotype": "protein_coding",
          "start": 70771238,
          "end": 70785401,
          "strand": "-",
          "slug": "tbata"
        },
        {
          "symbol": "SGPL1",
          "ensemblId": "ENSG00000166224",
          "biotype": "protein_coding",
          "start": 70815899,
          "end": 70958721,
          "strand": "+",
          "slug": "sgpl1"
        },
        {
          "symbol": "PCBD1",
          "ensemblId": "ENSG00000166228",
          "biotype": "protein_coding",
          "start": 70882280,
          "end": 70888616,
          "strand": "-",
          "slug": "pcbd1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-hemophagocytic-lymphohistiocytosis",
        "name": "Perekondlik hemofagotsütaarne lümfohistiotsütoos",
        "diseases": [
          {
            "mondoId": "MONDO:0011337",
            "name": "Perekondlik hemofagotsütaarne lümfohistiotsütoos 2. tüüp (PRF1)",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Põhjustatud PRF1 geeni muutustest, mis kodeerib perforiini, valku, mida immuunrakud kasutavad nakatunud rakkude hävitamiseks.",
            "management": "Varane äratundmine võimaldab kiiret ravi ja kõdurakkude siirdamise planeerimist, mis on ainus ravi.",
            "evidence": {
              "gencc": [
                "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": [
                "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": "obligate",
        "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": "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": "aplastic-anemia",
        "name": "Aplastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aplastic-anemia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autoimmune-antibody-positivity",
        "name": "Autoimmune antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/autoimmune-antibody-positivity"
      },
      {
        "slug": "gingival-bleeding",
        "name": "Bleeding gums",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gingival-bleeding"
      },
      {
        "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": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epistaxis"
      },
      {
        "slug": "bone-marrow-hypocellularity",
        "name": "Bone marrow failure",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity"
      },
      {
        "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": "lymphoma",
        "name": "Cancer of lymphatic system",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/lymphoma"
      },
      {
        "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": "cns-demyelination",
        "name": "CNS demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cns-demyelination"
      },
      {
        "slug": "colitis",
        "name": "Colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "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-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "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": "occasional",
        "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": "hypoproteinemia",
        "name": "Decreased protein levels in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypoproteinemia"
      },
      {
        "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": "obligate",
        "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"
        ],
        "frequency": "obligate",
        "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"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "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": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-edema",
        "name": "Generalized edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/generalized-edema"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "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": "increased-total-bilirubin",
        "name": "High bili total",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-total-bilirubin"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hypofibrinogenemia",
        "name": "Hypofibrinogenemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-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": "increased-csf-protein-concentration",
        "name": "Increased CSF protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-protein-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": "very-frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "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": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "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": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "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": "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": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "tetraplegia",
        "name": "Paralysis of all four limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tetraplegia"
      },
      {
        "slug": "hemiplegia",
        "name": "Paralysis on one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hemiplegia"
      },
      {
        "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": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "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": "reticulocytopenia",
        "name": "Reticulocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reticulocytopenia"
      },
      {
        "slug": "retinal-hemorrhage",
        "name": "Retinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-hemorrhage"
      },
      {
        "slug": "increased-intracranial-pressure",
        "name": "Rise in pressure inside skull",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-intracranial-pressure"
      },
      {
        "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": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "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": []
  }
}