{
  "url": "https://dantelabs.com/pl/genes/pdhb",
  "gene": {
    "slug": "pdhb",
    "symbol": "PDHB",
    "name": "pyruvate dehydrogenase E1 subunit beta",
    "hgnc": "HGNC:8808",
    "summary": null,
    "location": "3p14.3",
    "locusType": "gene with protein product",
    "aliases": [
      "PDHE1B",
      "E1beta"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000168291",
    "entrezId": 5162,
    "omim": [
      "179060"
    ],
    "uniprot": [
      "P11177"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 58427630,
      "end": 58433832,
      "strand": "-",
      "ensemblTranscript": "ENST00000302746.11",
      "refseqTranscript": "NM_000925.4",
      "ensemblProtein": "ENSP00000307241.6",
      "refseqProtein": "NP_000916.2",
      "exons": [
        {
          "start": 58427630,
          "end": 58428179
        },
        {
          "start": 58428473,
          "end": 58428614
        },
        {
          "start": 58429708,
          "end": 58429799
        },
        {
          "start": 58430128,
          "end": 58430238
        },
        {
          "start": 58430657,
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        },
        {
          "start": 58431593,
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        },
        {
          "start": 58431731,
          "end": 58431793
        },
        {
          "start": 58431877,
          "end": 58431984
        },
        {
          "start": 58433631,
          "end": 58433684
        },
        {
          "start": 58433768,
          "end": 58433832
        }
      ],
      "cds": {
        "start": 58428034,
        "end": 58433809
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 58413357,
      "end": 58419584,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 57930731,
      "end": 58930730,
      "genes": [
        {
          "symbol": "SLMAP",
          "ensemblId": "ENSG00000163681",
          "biotype": "protein_coding",
          "start": 57755450,
          "end": 57931461,
          "strand": "+",
          "slug": "slmap"
        },
        {
          "symbol": "FLNB",
          "ensemblId": "ENSG00000136068",
          "biotype": "protein_coding",
          "start": 58008398,
          "end": 58172251,
          "strand": "+",
          "slug": "flnb"
        },
        {
          "symbol": "DNASE1L3",
          "ensemblId": "ENSG00000163687",
          "biotype": "protein_coding",
          "start": 58191375,
          "end": 58214697,
          "strand": "-",
          "slug": "dnase1l3"
        },
        {
          "symbol": "ABHD6",
          "ensemblId": "ENSG00000163686",
          "biotype": "protein_coding",
          "start": 58237502,
          "end": 58296814,
          "strand": "+",
          "slug": "abhd6"
        },
        {
          "symbol": "RPP14",
          "ensemblId": "ENSG00000163684",
          "biotype": "protein_coding",
          "start": 58306239,
          "end": 58324695,
          "strand": "+",
          "slug": "rpp14"
        },
        {
          "symbol": "HTD2",
          "ensemblId": "ENSG00000255154",
          "biotype": "protein_coding",
          "start": 58306239,
          "end": 58324695,
          "strand": "+",
          "slug": "htd2"
        },
        {
          "symbol": "PXK",
          "ensemblId": "ENSG00000168297",
          "biotype": "protein_coding",
          "start": 58332579,
          "end": 58426867,
          "strand": "+",
          "slug": "pxk"
        },
        {
          "symbol": "KCTD6",
          "ensemblId": "ENSG00000168301",
          "biotype": "protein_coding",
          "start": 58491078,
          "end": 58502584,
          "strand": "+",
          "slug": "kctd6"
        },
        {
          "symbol": "ACOX2",
          "ensemblId": "ENSG00000168306",
          "biotype": "protein_coding",
          "start": 58504544,
          "end": 58537400,
          "strand": "-",
          "slug": "acox2"
        },
        {
          "symbol": "FAM107A",
          "ensemblId": "ENSG00000168309",
          "biotype": "protein_coding",
          "start": 58564114,
          "end": 58627651,
          "strand": "-",
          "slug": "fam107a"
        },
        {
          "symbol": "FAM3D",
          "ensemblId": "ENSG00000198643",
          "biotype": "protein_coding",
          "start": 58633941,
          "end": 58666877,
          "strand": "-",
          "slug": "fam3d"
        },
        {
          "symbol": "CFAP20DC",
          "ensemblId": "ENSG00000163689",
          "biotype": "protein_coding",
          "start": 58717365,
          "end": 59050084,
          "strand": "-",
          "slug": "cfap20dc"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency",
        "name": "Niedobór dehydrogenazy pirogronianowej i karboksylazy pirogronianowej",
        "diseases": [
          {
            "mondoId": "MONDO:0019169",
            "name": "Niedobór dehydrogenazy pirogronianowej",
            "genes": 7,
            "inheritance": "autosomal-recessive",
            "description": "Wywoływany przez warianty w genach PDHA1 (sprzężonym z chromosomem X, często powstającym de novo u dziecka) lub w genach PDHB, DLAT, PDHX, DLD, PDP1 lub LIAS, które mogą powodować kwasicę mleczanową, opóźnienie rozwoju, napady drgawkowe i zaburzenia ruchowe.",
            "management": "Znajomość wyniku umożliwia stosowanie diety ketogennej, unikanie dużych obciążeń węglowodanowych oraz podawanie tiaminy w postaciach reagujących na nią.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency"
      },
      {
        "slug": "leigh-syndrome",
        "name": "Zespół Leigha",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Zespół Leigha",
            "genes": 69,
            "inheritance": null,
            "description": "Postępująca choroba neurologiczna charakteryzująca się określonymi cechami neuropatologicznymi, obejmującymi zmiany w pniu mózgu i jądrach podstawy.",
            "management": null,
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/leigh-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormal-calvaria-morphology",
        "name": "Abnormality of cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-calvaria-morphology"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "corticospinal-tract-hypoplasia",
        "name": "Corticospinal tract hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corticospinal-tract-hypoplasia"
      },
      {
        "slug": "decreased-activity-of-the-pyruvate-dehydrogenase-complex",
        "name": "Decreased activity of the pyruvate dehydrogenase complex",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-activity-of-the-pyruvate-dehydrogenase-complex"
      },
      {
        "slug": "decreased-body-weight",
        "name": "Decreased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-body-weight"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "impaired-smooth-pursuit",
        "name": "Impaired smooth pursuit",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-smooth-pursuit"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "periventricular-cysts",
        "name": "Periventricular cysts",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/periventricular-cysts"
      },
      {
        "slug": "periventricular-heterotopia",
        "name": "Periventricular heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/periventricular-heterotopia"
      },
      {
        "slug": "periventricular-leukomalacia",
        "name": "Periventricular leukomalacia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/periventricular-leukomalacia"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "short-corpus-callosum",
        "name": "Short corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-corpus-callosum"
      },
      {
        "slug": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [
      {
        "slug": "dlat",
        "symbol": "DLAT",
        "name": "dihydrolipoamide S-acetyltransferase",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/dlat"
      },
      {
        "slug": "dld",
        "symbol": "DLD",
        "name": "dihydrolipoamide dehydrogenase",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/dld"
      },
      {
        "slug": "pdha1",
        "symbol": "PDHA1",
        "name": "pyruvate dehydrogenase E1 subunit alpha 1",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/pdha1"
      },
      {
        "slug": "pdhx",
        "symbol": "PDHX",
        "name": "pyruvate dehydrogenase complex component X",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/pdhx"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/aifm1"
      },
      {
        "slug": "atp5mk",
        "symbol": "ATP5MK",
        "name": "ATP synthase membrane subunit k",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/atp5mk"
      },
      {
        "slug": "btd",
        "symbol": "BTD",
        "name": "biotinidase",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/btd"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cox10"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ears2"
      },
      {
        "slug": "echs1",
        "symbol": "ECHS1",
        "name": "enoyl-CoA hydratase, short chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/echs1"
      },
      {
        "slug": "ethe1",
        "symbol": "ETHE1",
        "name": "ETHE1 persulfide dioxygenase",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ethe1"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/fars2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}