{
  "url": "https://dantelabs.com/genes/bach2",
  "gene": {
    "slug": "bach2",
    "symbol": "BACH2",
    "name": "BACH transcriptional regulator 2",
    "hgnc": "HGNC:14078",
    "summary": null,
    "location": "6q15",
    "locusType": "gene with protein product",
    "aliases": [
      "BTBD25"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000112182",
    "entrezId": 60468,
    "omim": [
      "605394"
    ],
    "uniprot": [
      "Q9BYV9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 89926528,
      "end": 90296843,
      "strand": "-",
      "ensemblTranscript": "ENST00000257749.9",
      "refseqTranscript": "NM_021813.4",
      "ensemblProtein": "ENSP00000257749.4",
      "refseqProtein": "NP_068585.1",
      "exons": [
        {
          "start": 89926528,
          "end": 89932890
        },
        {
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        {
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        {
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        },
        {
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        },
        {
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        {
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        },
        {
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        },
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        }
      ],
      "cds": {
        "start": 89932408,
        "end": 90008844
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 90636248,
      "end": 91006627,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 89556212,
      "end": 90667159,
      "genes": [
        {
          "symbol": "ANKRD6",
          "ensemblId": "ENSG00000135299",
          "biotype": "protein_coding",
          "start": 89433119,
          "end": 89634170,
          "strand": "+",
          "slug": "ankrd6"
        },
        {
          "symbol": "LYRM2",
          "ensemblId": "ENSG00000083099",
          "biotype": "protein_coding",
          "start": 89568144,
          "end": 89638761,
          "strand": "-",
          "slug": "lyrm2"
        },
        {
          "symbol": "MDN1",
          "ensemblId": "ENSG00000112159",
          "biotype": "protein_coding",
          "start": 89642498,
          "end": 89819809,
          "strand": "-",
          "slug": "mdn1"
        },
        {
          "symbol": "CASP8AP2",
          "ensemblId": "ENSG00000118412",
          "biotype": "protein_coding",
          "start": 89829894,
          "end": 89874436,
          "strand": "+",
          "slug": "casp8ap2"
        },
        {
          "symbol": "GJA10",
          "ensemblId": "ENSG00000135355",
          "biotype": "protein_coding",
          "start": 89894469,
          "end": 89921760,
          "strand": "+",
          "slug": "gja10"
        },
        {
          "symbol": "MAP3K7",
          "ensemblId": "ENSG00000135341",
          "biotype": "protein_coding",
          "start": 90513472,
          "end": 90587233,
          "strand": "-",
          "slug": "map3k7"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "ipex-and-tregopathies",
        "name": "IPEX Syndrome and Other Tregopathies",
        "diseases": [
          {
            "mondoId": "MONDO:0032723",
            "name": "BACH2-related immunodeficiency (immunodeficiency 60)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Colitis, lymphoproliferation, low antibodies and infections caused by a single changed copy of BACH2.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/ipex-and-tregopathies"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Other Inborn Errors of Immunity",
        "diseases": [
          {
            "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": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "colitis",
        "name": "Colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/colitis"
      },
      {
        "slug": "crohn-s-disease",
        "name": "Crohn's disease",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/crohn-s-disease"
      },
      {
        "slug": "decreased-circulating-iga-concentration",
        "name": "Decreased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration"
      },
      {
        "slug": "decreased-circulating-ige-concentration",
        "name": "Decreased circulating IgE concentration",
        "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/decreased-circulating-ige-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "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/decreased-circulating-igm-concentration"
      },
      {
        "slug": "decreased-memory-b-cell-proportion",
        "name": "Decreased memory B cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-memory-b-cell-proportion"
      },
      {
        "slug": "decreased-total-basophil-count",
        "name": "Decreased total basophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-basophil-count"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "pulmonary-infiltrates",
        "name": "Lung infiltrates",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-infiltrates"
      },
      {
        "slug": "perinuclear-antineutrophil-antibody-positivity",
        "name": "Perinuclear antineutrophil antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/perinuclear-antineutrophil-antibody-positivity"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "recurrent-sinopulmonary-infections",
        "name": "Recurrent sinus and lung infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-sinopulmonary-infections"
      },
      {
        "slug": "ulcerative-colitis",
        "name": "Ulcerative colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ulcerative-colitis"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/genes/ak2"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/genes/arpc1b"
      },
      {
        "slug": "arpc5",
        "symbol": "ARPC5",
        "name": "actin related protein 2/3 complex subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/genes/arpc5"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/atm"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/atp6ap1"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/genes/b2m"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/btk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}