{
  "url": "https://dantelabs.com/cs/genes/bche",
  "gene": {
    "slug": "bche",
    "symbol": "BCHE",
    "name": "butyrylcholinesterase",
    "hgnc": "HGNC:983",
    "summary": null,
    "location": "3q26.1",
    "locusType": "gene with protein product",
    "aliases": [
      "E1"
    ],
    "previousSymbols": [
      "CHE1",
      "CHE2"
    ],
    "ensemblId": "ENSG00000114200",
    "entrezId": 590,
    "omim": [
      "177400"
    ],
    "uniprot": [
      "P06276"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 165772904,
      "end": 165837423,
      "strand": "-",
      "ensemblTranscript": "ENST00000264381.8",
      "refseqTranscript": "NM_000055.4",
      "ensemblProtein": "ENSP00000264381.3",
      "refseqProtein": "NP_000046.1",
      "exons": [
        {
          "start": 165772904,
          "end": 165773506
        },
        {
          "start": 165786145,
          "end": 165786311
        },
        {
          "start": 165829517,
          "end": 165831041
        },
        {
          "start": 165837314,
          "end": 165837423
        }
      ],
      "cds": {
        "start": 165773382,
        "end": 165831033
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 165490692,
      "end": 165555260,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 165305164,
      "end": 166305163,
      "genes": [],
      "truncated": false
    },
    "reports": [
      {
        "slug": "butyrylcholinesterase-deficiency",
        "name": "Butyrylcholinesterase Deficiency",
        "diseases": [
          {
            "mondoId": "MONDO:0015270",
            "name": "Butyrylcholinesterase Deficiency",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "A recessive condition caused by changes in BCHE that can lead to prolonged muscle paralysis and breathing support lasting hours after the muscle relaxants suxamethonium (succinylcholine) or mivacurium, and can also affect the breakdown of some ester local anaesthetics and cocaine.",
            "management": "Telling the anaesthetist allows these drugs to be avoided or used with care; people with one altered copy usually have milder effects.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/butyrylcholinesterase-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-enzyme-concentration-or-activity",
        "name": "Abnormal circulating enzyme concentration or activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity"
      },
      {
        "slug": "neoplasm",
        "name": "Abnormal tissue mass",
        "systems": [],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/neoplasm"
      },
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chronic-infection",
        "name": "Chronic infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chronic-infection"
      },
      {
        "slug": "myocardial-infarction",
        "name": "Heart attack",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/myocardial-infarction"
      },
      {
        "slug": "paralysis",
        "name": "Paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/paralysis"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "respiratory-failure-requiring-assisted-ventilation",
        "name": "Respiratory failure requiring assisted ventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}