{
  "url": "https://dantelabs.com/fr/genes/tlr8",
  "gene": {
    "slug": "tlr8",
    "symbol": "TLR8",
    "name": "toll like receptor 8",
    "hgnc": "HGNC:15632",
    "summary": null,
    "location": "Xp22.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CD288",
      "hTLR8"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000101916",
    "entrezId": 51311,
    "omim": [
      "300366"
    ],
    "uniprot": [
      "Q9NR97"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 12906620,
      "end": 12923169,
      "strand": "+",
      "ensemblTranscript": "ENST00000218032.7",
      "refseqTranscript": "NM_138636.5",
      "ensemblProtein": "ENSP00000218032.7",
      "refseqProtein": "NP_619542.1",
      "exons": [
        {
          "start": 12906620,
          "end": 12906709
        },
        {
          "start": 12919044,
          "end": 12923169
        }
      ],
      "cds": {
        "start": 12906707,
        "end": 12922166
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 12924739,
      "end": 12941288,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 12414895,
      "end": 13414894,
      "genes": [
        {
          "symbol": "FRMPD4",
          "ensemblId": "ENSG00000169933",
          "biotype": "protein_coding",
          "start": 11822423,
          "end": 12724523,
          "strand": "+",
          "slug": "frmpd4"
        },
        {
          "symbol": "PRPS2",
          "ensemblId": "ENSG00000101911",
          "biotype": "protein_coding",
          "start": 12791355,
          "end": 12825558,
          "strand": "+",
          "slug": "prps2"
        },
        {
          "symbol": "TLR7",
          "ensemblId": "ENSG00000196664",
          "biotype": "protein_coding",
          "start": 12866994,
          "end": 12890361,
          "strand": "+",
          "slug": "tlr7"
        },
        {
          "symbol": "TMSB4X",
          "ensemblId": "ENSG00000205542",
          "biotype": "protein_coding",
          "start": 12975003,
          "end": 12977228,
          "strand": "+",
          "slug": "tmsb4x"
        },
        {
          "symbol": "FAM9C",
          "ensemblId": "ENSG00000187268",
          "biotype": "protein_coding",
          "start": 13035617,
          "end": 13044682,
          "strand": "-",
          "slug": "fam9c"
        },
        {
          "symbol": "ATXN3L",
          "ensemblId": "ENSG00000123594",
          "biotype": "protein_coding",
          "start": 13318647,
          "end": 13320053,
          "strand": "-",
          "slug": "atxn3l"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "immunodeficiency-disease",
        "name": "Autres erreurs innées de l'immunité",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Déficit immunitaire",
            "genes": 170,
            "inheritance": null,
            "description": "Maladie caractérisée par une déficience ou une anomalie des mécanismes de l'immunité, qu'elle soit cellulaire ou humorale.",
            "management": "HSCT pour le SCID et les DIP sévères ; traitement substitutif par immunoglobulines (IVIG/SCIG) pour les déficits en anticorps ; leniolisib (Joenja, FDA 2023) pour l'APDS ; thérapie génique pour l'ADA-SCID ; abatacept pour le déficit en CTLA4/LRBA ; antibioprophylaxie ; G-CSF pour la CGD",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absence-of-circulating-granulocytes",
        "name": "Absence of circulating granulocytes",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absence-of-circulating-granulocytes"
      },
      {
        "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": "autoimmune-hemolytic-anemia",
        "name": "Autoimmune hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia"
      },
      {
        "slug": "bone-marrow-hypocellularity",
        "name": "Bone marrow failure",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity"
      },
      {
        "slug": "recurrent-oral-thrush",
        "name": "Chronic oral thrush",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-oral-thrush"
      },
      {
        "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": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hemophagocytosis",
        "name": "Hemophagocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemophagocytosis"
      },
      {
        "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": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "myelofibrosis",
        "name": "Myelofibrosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myelofibrosis"
      },
      {
        "slug": "pneumocystis-jirovecii-pneumonia",
        "name": "Pneumocystis jirovecii pneumonia",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pneumocystis-jirovecii-pneumonia"
      },
      {
        "slug": "recurrent-aphthous-stomatitis",
        "name": "Recurrent canker sores",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-aphthous-stomatitis"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "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"
      },
      {
        "slug": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ak2"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arpc1b"
      },
      {
        "slug": "arpc5",
        "symbol": "ARPC5",
        "name": "actin related protein 2/3 complex subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arpc5"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atm"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp6ap1"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/b2m"
      },
      {
        "slug": "bach2",
        "symbol": "BACH2",
        "name": "BACH transcriptional regulator 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bach2"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/blnk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}