{
  "url": "https://dantelabs.com/genes/dbt",
  "gene": {
    "slug": "dbt",
    "symbol": "DBT",
    "name": "dihydrolipoamide branched chain transacylase E2",
    "hgnc": "HGNC:2698",
    "summary": null,
    "location": "1p21.2",
    "locusType": "gene with protein product",
    "aliases": [
      "BCOADC-E2",
      "BCKAD-E2",
      "BCKDH-E2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000137992",
    "entrezId": 1629,
    "omim": [
      "248610"
    ],
    "uniprot": [
      "P11182"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 100186919,
      "end": 100249834,
      "strand": "-",
      "ensemblTranscript": "ENST00000370132.8",
      "refseqTranscript": "NM_001918.5",
      "ensemblProtein": "ENSP00000359151.3",
      "refseqProtein": "NP_001909.4",
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      ],
      "cds": {
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        "end": 100249820
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 100652475,
      "end": 100715390,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 100718376,
      "genes": [
        {
          "symbol": "FRRS1",
          "ensemblId": "ENSG00000156869",
          "biotype": "protein_coding",
          "start": 99703970,
          "end": 99766642,
          "strand": "-",
          "slug": "frrs1"
        },
        {
          "symbol": "AGL",
          "ensemblId": "ENSG00000162688",
          "biotype": "protein_coding",
          "start": 99849777,
          "end": 99924427,
          "strand": "+",
          "slug": "agl"
        },
        {
          "symbol": "SLC35A3",
          "ensemblId": "ENSG00000117620",
          "biotype": "protein_coding",
          "start": 99969351,
          "end": 100035634,
          "strand": "+",
          "slug": "slc35a3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000283761",
          "biotype": "protein_coding",
          "start": 99970011,
          "end": 100083321,
          "strand": "+"
        },
        {
          "symbol": "SLC71A1",
          "ensemblId": "ENSG00000156875",
          "biotype": "protein_coding",
          "start": 100038076,
          "end": 100083948,
          "strand": "+",
          "slug": "slc71a1"
        },
        {
          "symbol": "SASS6",
          "ensemblId": "ENSG00000156876",
          "biotype": "protein_coding",
          "start": 100083563,
          "end": 100132955,
          "strand": "-",
          "slug": "sass6"
        },
        {
          "symbol": "TRMT13",
          "ensemblId": "ENSG00000122435",
          "biotype": "protein_coding",
          "start": 100133043,
          "end": 100151150,
          "strand": "+",
          "slug": "trmt13"
        },
        {
          "symbol": "LRRC39",
          "ensemblId": "ENSG00000122477",
          "biotype": "protein_coding",
          "start": 100146522,
          "end": 100178306,
          "strand": "-",
          "slug": "lrrc39"
        },
        {
          "symbol": "RTCA",
          "ensemblId": "ENSG00000137996",
          "biotype": "protein_coding",
          "start": 100266154,
          "end": 100292769,
          "strand": "+",
          "slug": "rtca"
        },
        {
          "symbol": "CDC14A",
          "ensemblId": "ENSG00000079335",
          "biotype": "protein_coding",
          "start": 100325629,
          "end": 100520564,
          "strand": "+",
          "slug": "cdc14a"
        },
        {
          "symbol": "GPR88",
          "ensemblId": "ENSG00000181656",
          "biotype": "protein_coding",
          "start": 100538105,
          "end": 100542021,
          "strand": "+",
          "slug": "gpr88"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "maple-syrup-urine-disease",
        "name": "Maple Syrup Urine Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0009563",
            "name": "Maple Syrup Urine Disease",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Caused by variants in BCKDHA, BCKDHB or DBT, which can cause a sweet-smelling urine, poor feeding and, without treatment, brain swelling and metabolic crises.",
            "management": "Knowing allows a protein-modified diet, close monitoring of leucine levels and emergency care during illness, which can prevent brain injury.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 9
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/maple-syrup-urine-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ketoacidosis",
        "name": "Ketoacidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ketoacidosis"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "opisthotonus",
        "name": "Opisthotonus",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/opisthotonus"
      }
    ],
    "related": [
      {
        "slug": "bckdha",
        "symbol": "BCKDHA",
        "name": "branched chain keto acid dehydrogenase E1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/genes/bckdha"
      },
      {
        "slug": "bckdhb",
        "symbol": "BCKDHB",
        "name": "branched chain keto acid dehydrogenase E1 subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/genes/bckdhb"
      },
      {
        "slug": "dld",
        "symbol": "DLD",
        "name": "dihydrolipoamide dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/dld"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}