{
  "url": "https://dantelabs.com/nl/genes/ndufb8",
  "gene": {
    "slug": "ndufb8",
    "symbol": "NDUFB8",
    "name": "NADH:ubiquinone oxidoreductase subunit B8",
    "hgnc": "HGNC:7703",
    "summary": null,
    "location": "10q24.31",
    "locusType": "gene with protein product",
    "aliases": [
      "ASHI",
      "CI-ASHI"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000166136",
    "entrezId": 4714,
    "omim": [
      "602140"
    ],
    "uniprot": [
      "O95169"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 100523740,
      "end": 100529871,
      "strand": "-",
      "ensemblTranscript": "ENST00000299166.9",
      "refseqTranscript": "NM_005004.4",
      "ensemblProtein": "ENSP00000299166.4",
      "refseqProtein": "NP_004995.1",
      "exons": [
        {
          "start": 100523740,
          "end": 100523929
        },
        {
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          "end": 100526554
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        {
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        }
      ],
      "cds": {
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        "end": 100529851
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 102267203,
      "end": 102289757,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 100026806,
      "end": 101026805,
      "genes": [
        {
          "symbol": "CPN1",
          "ensemblId": "ENSG00000120054",
          "biotype": "protein_coding",
          "start": 100041105,
          "end": 100081907,
          "strand": "-",
          "slug": "cpn1"
        },
        {
          "symbol": "ERLIN1",
          "ensemblId": "ENSG00000107566",
          "biotype": "protein_coding",
          "start": 100150094,
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          "strand": "-",
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        {
          "symbol": "CHUK",
          "ensemblId": "ENSG00000213341",
          "biotype": "protein_coding",
          "start": 100188299,
          "end": 100229611,
          "strand": "-",
          "slug": "chuk"
        },
        {
          "symbol": "CWF19L1",
          "ensemblId": "ENSG00000095485",
          "biotype": "protein_coding",
          "start": 100230024,
          "end": 100267685,
          "strand": "-",
          "slug": "cwf19l1"
        },
        {
          "symbol": "BLOC1S2",
          "ensemblId": "ENSG00000196072",
          "biotype": "protein_coding",
          "start": 100272797,
          "end": 100286708,
          "strand": "-",
          "slug": "bloc1s2"
        },
        {
          "symbol": "PKD2L1",
          "ensemblId": "ENSG00000107593",
          "biotype": "protein_coding",
          "start": 100288149,
          "end": 100330264,
          "strand": "-",
          "slug": "pkd2l1"
        },
        {
          "symbol": "SCD",
          "ensemblId": "ENSG00000099194",
          "biotype": "protein_coding",
          "start": 100346508,
          "end": 100364837,
          "strand": "+",
          "slug": "scd"
        },
        {
          "symbol": "WNT8B",
          "ensemblId": "ENSG00000075290",
          "biotype": "protein_coding",
          "start": 100463009,
          "end": 100483744,
          "strand": "+",
          "slug": "wnt8b"
        },
        {
          "symbol": "SEC31B",
          "ensemblId": "ENSG00000075826",
          "biotype": "protein_coding",
          "start": 100484998,
          "end": 100519892,
          "strand": "-",
          "slug": "sec31b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000255339",
          "biotype": "protein_coding",
          "start": 100505628,
          "end": 100529881,
          "strand": "-"
        },
        {
          "symbol": "HIF1AN",
          "ensemblId": "ENSG00000166135",
          "biotype": "protein_coding",
          "start": 100529072,
          "end": 100681896,
          "strand": "+",
          "slug": "hif1an"
        },
        {
          "symbol": "PAX2",
          "ensemblId": "ENSG00000075891",
          "biotype": "protein_coding",
          "start": 100735380,
          "end": 100829944,
          "strand": "+",
          "slug": "pax2"
        },
        {
          "symbol": "SLF2",
          "ensemblId": "ENSG00000119906",
          "biotype": "protein_coding",
          "start": 100912963,
          "end": 100965134,
          "strand": "+",
          "slug": "slf2"
        },
        {
          "symbol": "MRPL43",
          "ensemblId": "ENSG00000055950",
          "biotype": "protein_coding",
          "start": 100968131,
          "end": 100990450,
          "strand": "-",
          "slug": "mrpl43"
        },
        {
          "symbol": "SEMA4G",
          "ensemblId": "ENSG00000095539",
          "biotype": "protein_coding",
          "start": 100969493,
          "end": 100985871,
          "strand": "+",
          "slug": "sema4g"
        },
        {
          "symbol": "TWNK",
          "ensemblId": "ENSG00000107815",
          "biotype": "protein_coding",
          "start": 100987367,
          "end": 100994403,
          "strand": "+",
          "slug": "twnk"
        },
        {
          "symbol": "LZTS2",
          "ensemblId": "ENSG00000107816",
          "biotype": "protein_coding",
          "start": 100996539,
          "end": 101007852,
          "strand": "+",
          "slug": "lzts2"
        },
        {
          "symbol": "PDZD7",
          "ensemblId": "ENSG00000186862",
          "biotype": "protein_coding",
          "start": 101007679,
          "end": 101032295,
          "strand": "-",
          "slug": "pdzd7"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "leigh-syndrome",
        "name": "Syndroom van Leigh",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Syndroom van Leigh",
            "genes": 69,
            "inheritance": null,
            "description": "Een progressieve neurologische aandoening, gekenmerkt door specifieke neuropathologische kenmerken waarbij laesies in de hersenstam en de basale ganglia samen voorkomen.",
            "management": null,
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/leigh-syndrome"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primaire mitochondriële ziekte",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Deficiëntie van het mitochondriale ademhalingsketencomplex",
            "genes": 61,
            "inheritance": null,
            "description": "Geïsoleerde deficiënties van complex I, II, III, IV of V, veroorzaakt door varianten in nucleaire of mitochondriale genen. Ze kunnen de hersenen, spieren, het hart, de lever en andere organen met een hoge energiebehoefte aantasten.",
            "management": "Weten kan een diagnostisch zoektraject beëindigen en helpt bij de controle van aangedane organen en bij het vermijden van geneesmiddelen die giftig zijn voor mitochondriën.",
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/primary-mitochondrial-disease"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Zeldzame erfelijke perifere neuropathieën",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Erfelijke perifere neuropathie",
            "genes": 233,
            "inheritance": null,
            "description": "Veroorzaakt door veranderingen in een van de vele genen die nodig zijn om lange zenuwvezels gezond te houden. In dit rapport gaat het onder meer om IGHMBP2 en PLEKHG5, die recessief zijn.",
            "management": "Fysiotherapie, orthesen en ergotherapie helpen de beweeglijkheid te behouden; bij voetmisvormingen kan een operatie nodig zijn. Sommige vormen vragen om controle van de ademhaling. Erfelijkheidsadvies begeleidt het testen van familieleden volgens het overervingspatroon van het betrokken gen.",
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "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"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "patent-urachus",
        "name": "Patent urachus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patent-urachus"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/cox10"
      },
      {
        "slug": "foxred1",
        "symbol": "FOXRED1",
        "name": "FAD dependent oxidoreductase domain containing 1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/foxred1"
      },
      {
        "slug": "lrpprc",
        "symbol": "LRPPRC",
        "name": "leucine rich pentatricopeptide repeat containing",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/lrpprc"
      },
      {
        "slug": "ndufa1",
        "symbol": "NDUFA1",
        "name": "NADH:ubiquinone oxidoreductase subunit A1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/ndufa1"
      },
      {
        "slug": "ndufa13",
        "symbol": "NDUFA13",
        "name": "NADH:ubiquinone oxidoreductase subunit A13",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/ndufa13"
      },
      {
        "slug": "ndufa2",
        "symbol": "NDUFA2",
        "name": "NADH:ubiquinone oxidoreductase subunit A2",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/ndufa2"
      },
      {
        "slug": "ndufa9",
        "symbol": "NDUFA9",
        "name": "NADH:ubiquinone oxidoreductase subunit A9",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/ndufa9"
      },
      {
        "slug": "ndufaf2",
        "symbol": "NDUFAF2",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/ndufaf2"
      },
      {
        "slug": "ndufaf5",
        "symbol": "NDUFAF5",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/ndufaf5"
      },
      {
        "slug": "ndufaf6",
        "symbol": "NDUFAF6",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/ndufaf6"
      },
      {
        "slug": "ndufaf8",
        "symbol": "NDUFAF8",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/ndufaf8"
      },
      {
        "slug": "ndufs1",
        "symbol": "NDUFS1",
        "name": "NADH:ubiquinone oxidoreductase core subunit S1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/ndufs1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}