{
  "url": "https://dantelabs.com/genes/bcl10",
  "gene": {
    "slug": "bcl10",
    "symbol": "BCL10",
    "name": "BCL10 immune signaling adaptor",
    "hgnc": "HGNC:989",
    "summary": null,
    "location": "1p22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CARMEN",
      "CIPER",
      "mE10",
      "c-E10",
      "CLAP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000142867",
    "entrezId": 8915,
    "omim": [
      "603517"
    ],
    "uniprot": [
      "O95999"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 85265776,
      "end": 85276632,
      "strand": "-",
      "ensemblTranscript": "ENST00000648566.1",
      "refseqTranscript": "NM_003921.5",
      "ensemblProtein": "ENSP00000498104.1",
      "refseqProtein": "NP_003912.1",
      "exons": [
        {
          "start": 85265776,
          "end": 85267982
        },
        {
          "start": 85270618,
          "end": 85270906
        },
        {
          "start": 85276296,
          "end": 85276632
        }
      ],
      "cds": {
        "start": 85267627,
        "end": 85276352
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 85731931,
      "end": 85742773,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 84771204,
      "end": 85771203,
      "genes": [
        {
          "symbol": "LPAR3",
          "ensemblId": "ENSG00000171517",
          "biotype": "protein_coding",
          "start": 84811541,
          "end": 84893540,
          "strand": "-",
          "slug": "lpar3"
        },
        {
          "symbol": "MCOLN2",
          "ensemblId": "ENSG00000153898",
          "biotype": "protein_coding",
          "start": 84925583,
          "end": 84997139,
          "strand": "-",
          "slug": "mcoln2"
        },
        {
          "symbol": "DNAI3",
          "ensemblId": "ENSG00000162643",
          "biotype": "protein_coding",
          "start": 84999147,
          "end": 85133274,
          "strand": "+",
          "slug": "dnai3"
        },
        {
          "symbol": "MCOLN3",
          "ensemblId": "ENSG00000055732",
          "biotype": "protein_coding",
          "start": 85018082,
          "end": 85048887,
          "strand": "-",
          "slug": "mcoln3"
        },
        {
          "symbol": "SYDE2",
          "ensemblId": "ENSG00000097096",
          "biotype": "protein_coding",
          "start": 85156511,
          "end": 85201751,
          "strand": "-",
          "slug": "syde2"
        },
        {
          "symbol": "C1orf52",
          "ensemblId": "ENSG00000162642",
          "biotype": "protein_coding",
          "start": 85249953,
          "end": 85259686,
          "strand": "-",
          "slug": "c1orf52"
        },
        {
          "symbol": "DDAH1",
          "ensemblId": "ENSG00000153904",
          "biotype": "protein_coding",
          "start": 85318481,
          "end": 85578363,
          "strand": "-",
          "slug": "ddah1"
        },
        {
          "symbol": "CCN1",
          "ensemblId": "ENSG00000142871",
          "biotype": "protein_coding",
          "start": 85580116,
          "end": 85584589,
          "strand": "+",
          "slug": "ccn1"
        },
        {
          "symbol": "ZNHIT6",
          "ensemblId": "ENSG00000117174",
          "biotype": "protein_coding",
          "start": 85649417,
          "end": 85708433,
          "strand": "-",
          "slug": "znhit6"
        },
        {
          "symbol": "COL24A1",
          "ensemblId": "ENSG00000171502",
          "biotype": "protein_coding",
          "start": 85728508,
          "end": 86156943,
          "strand": "-",
          "slug": "col24a1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "immunodeficiency-disease",
        "name": "Other Inborn Errors of Immunity",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Inborn error of immunity",
            "genes": 114,
            "inheritance": null,
            "description": "Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "LiferaOmics",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Immunodeficiency Disease",
            "genes": 170,
            "inheritance": null,
            "description": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.",
            "management": "HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "LiferaOmics",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-nasolacrimal-system-morphology",
        "name": "Abnormal nasolacrimal system morphology",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-nasolacrimal-system-morphology"
      },
      {
        "slug": "abnormality-of-the-thyroid-gland",
        "name": "Abnormality of the thyroid gland",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-thyroid-gland"
      },
      {
        "slug": "azoospermia",
        "name": "Absent sperm in semen",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/azoospermia"
      },
      {
        "slug": "b-cell-lymphoma",
        "name": "B-cell lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/b-cell-lymphoma"
      },
      {
        "slug": "infectious-encephalitis",
        "name": "Brain inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/infectious-encephalitis"
      },
      {
        "slug": "lymphoma",
        "name": "Cancer of lymphatic system",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/lymphoma"
      },
      {
        "slug": "choriocarcinoma",
        "name": "Choriocarcinoma",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/choriocarcinoma"
      },
      {
        "slug": "colitis",
        "name": "Colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/colitis"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "decreased-central-memory-cd4-t-cell-proportion",
        "name": "Decreased central memory CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-central-memory-cd4-t-cell-proportion"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "elevated-circulating-alpha-fetoprotein-concentration",
        "name": "Elevated circulating alpha-fetoprotein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-alpha-fetoprotein-concentration"
      },
      {
        "slug": "embryonal-neoplasm",
        "name": "Embryonal neoplasm",
        "systems": [
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/embryonal-neoplasm"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "gastric-lymphoma",
        "name": "Gastric lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/gastric-lymphoma"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "pulmonary-infiltrates",
        "name": "Lung infiltrates",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonary-infiltrates"
      },
      {
        "slug": "malignant-mesothelioma",
        "name": "Malignant mesothelioma",
        "systems": [
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/malignant-mesothelioma"
      },
      {
        "slug": "nausea-and-vomiting",
        "name": "Nausea and vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nausea-and-vomiting"
      },
      {
        "slug": "posterior-uveitis",
        "name": "Posterior uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/posterior-uveitis"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "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": "mediastinal-lymphadenopathy",
        "name": "Swollen lymph nodes in center of chest",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-thoracic-cavity"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mediastinal-lymphadenopathy"
      },
      {
        "slug": "teratoma",
        "name": "Teratoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/teratoma"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/atp6ap1"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 2,
        "url": "https://dantelabs.com/genes/c1qa"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 2,
        "url": "https://dantelabs.com/genes/c1qb"
      },
      {
        "slug": "c1qc",
        "symbol": "C1QC",
        "name": "complement C1q C chain",
        "shared": 2,
        "url": "https://dantelabs.com/genes/c1qc"
      },
      {
        "slug": "c1s",
        "symbol": "C1S",
        "name": "complement C1s",
        "shared": 2,
        "url": "https://dantelabs.com/genes/c1s"
      },
      {
        "slug": "c2",
        "symbol": "C2",
        "name": "complement C2",
        "shared": 2,
        "url": "https://dantelabs.com/genes/c2"
      },
      {
        "slug": "c3",
        "symbol": "C3",
        "name": "complement C3",
        "shared": 2,
        "url": "https://dantelabs.com/genes/c3"
      },
      {
        "slug": "c4a",
        "symbol": "C4A",
        "name": "complement C4A (Chido/Rodgers blood group)",
        "shared": 2,
        "url": "https://dantelabs.com/genes/c4a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}