{
  "url": "https://dantelabs.com/es/genes/ndufaf8",
  "gene": {
    "slug": "ndufaf8",
    "symbol": "NDUFAF8",
    "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8",
    "hgnc": "HGNC:33551",
    "summary": null,
    "location": "17q25.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "C17orf89"
    ],
    "ensemblId": "ENSG00000224877",
    "entrezId": 284184,
    "omim": [
      "618461"
    ],
    "uniprot": [
      "A1L188"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 81239318,
      "end": 81241310,
      "strand": "+",
      "ensemblTranscript": "ENST00000431388.3",
      "refseqTranscript": "NM_001086521.2",
      "ensemblProtein": "ENSP00000400184.2",
      "refseqProtein": "NP_001079990.1",
      "exons": [
        {
          "start": 81239318,
          "end": 81239447
        },
        {
          "start": 81239568,
          "end": 81239678
        },
        {
          "start": 81240987,
          "end": 81241310
        }
      ],
      "cds": {
        "start": 81239364,
        "end": 81241016
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 79213039,
      "end": 79215081,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 80740314,
      "end": 81740313,
      "genes": [
        {
          "symbol": "RPTOR",
          "ensemblId": "ENSG00000141564",
          "biotype": "protein_coding",
          "start": 80544819,
          "end": 80966371,
          "strand": "+",
          "slug": "rptor"
        },
        {
          "symbol": "CHMP6",
          "ensemblId": "ENSG00000176108",
          "biotype": "protein_coding",
          "start": 80991598,
          "end": 81031356,
          "strand": "+",
          "slug": "chmp6"
        },
        {
          "symbol": "BAIAP2",
          "ensemblId": "ENSG00000175866",
          "biotype": "protein_coding",
          "start": 81035122,
          "end": 81117434,
          "strand": "+",
          "slug": "baiap2"
        },
        {
          "symbol": "LMTK1",
          "ensemblId": "ENSG00000181409",
          "biotype": "protein_coding",
          "start": 81110487,
          "end": 81166228,
          "strand": "-",
          "slug": "lmtk1"
        },
        {
          "symbol": "PVALEF",
          "ensemblId": "ENSG00000225180",
          "biotype": "protein_coding",
          "start": 81165507,
          "end": 81183166,
          "strand": "+",
          "slug": "pvalef"
        },
        {
          "symbol": "CEP131",
          "ensemblId": "ENSG00000141577",
          "biotype": "protein_coding",
          "start": 81189583,
          "end": 81223014,
          "strand": "-",
          "slug": "cep131"
        },
        {
          "symbol": "TEPSIN",
          "ensemblId": "ENSG00000167302",
          "biotype": "protein_coding",
          "start": 81228277,
          "end": 81239095,
          "strand": "-",
          "slug": "tepsin"
        },
        {
          "symbol": "SLC38A10",
          "ensemblId": "ENSG00000157637",
          "biotype": "protein_coding",
          "start": 81244811,
          "end": 81295567,
          "strand": "-",
          "slug": "slc38a10"
        },
        {
          "symbol": "BAHCC1",
          "ensemblId": "ENSG00000266074",
          "biotype": "protein_coding",
          "start": 81395450,
          "end": 81466331,
          "strand": "+",
          "slug": "bahcc1"
        },
        {
          "symbol": "ACTG1",
          "ensemblId": "ENSG00000184009",
          "biotype": "protein_coding",
          "start": 81509413,
          "end": 81523847,
          "strand": "-",
          "slug": "actg1"
        },
        {
          "symbol": "FSCN2",
          "ensemblId": "ENSG00000186765",
          "biotype": "protein_coding",
          "start": 81528372,
          "end": 81542415,
          "strand": "+",
          "slug": "fscn2"
        },
        {
          "symbol": "FAAP100",
          "ensemblId": "ENSG00000185504",
          "biotype": "protein_coding",
          "start": 81539885,
          "end": 81553961,
          "strand": "-",
          "slug": "faap100"
        },
        {
          "symbol": "NPLOC4",
          "ensemblId": "ENSG00000182446",
          "biotype": "protein_coding",
          "start": 81556887,
          "end": 81648465,
          "strand": "-",
          "slug": "nploc4"
        },
        {
          "symbol": "TSPAN10",
          "ensemblId": "ENSG00000182612",
          "biotype": "protein_coding",
          "start": 81637171,
          "end": 81648754,
          "strand": "+",
          "slug": "tspan10"
        },
        {
          "symbol": "PDE6G",
          "ensemblId": "ENSG00000185527",
          "biotype": "protein_coding",
          "start": 81650459,
          "end": 81663112,
          "strand": "-",
          "slug": "pde6g"
        },
        {
          "symbol": "OXLD1",
          "ensemblId": "ENSG00000204237",
          "biotype": "protein_coding",
          "start": 81665033,
          "end": 81666635,
          "strand": "-",
          "slug": "oxld1"
        },
        {
          "symbol": "CCDC137",
          "ensemblId": "ENSG00000185298",
          "biotype": "protein_coding",
          "start": 81666698,
          "end": 81673904,
          "strand": "+",
          "slug": "ccdc137"
        },
        {
          "symbol": "ARL16",
          "ensemblId": "ENSG00000214087",
          "biotype": "protein_coding",
          "start": 81681160,
          "end": 81683797,
          "strand": "-",
          "slug": "arl16"
        },
        {
          "symbol": "HGS",
          "ensemblId": "ENSG00000185359",
          "biotype": "protein_coding",
          "start": 81683326,
          "end": 81703138,
          "strand": "+",
          "slug": "hgs"
        },
        {
          "symbol": "MRPL12",
          "ensemblId": "ENSG00000262814",
          "biotype": "protein_coding",
          "start": 81703357,
          "end": 81711112,
          "strand": "+",
          "slug": "mrpl12"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000262660",
          "biotype": "protein_coding",
          "start": 81703371,
          "end": 81720539,
          "strand": "+"
        },
        {
          "symbol": "SLC25A10",
          "ensemblId": "ENSG00000183048",
          "biotype": "protein_coding",
          "start": 81711951,
          "end": 81721969,
          "strand": "+",
          "slug": "slc25a10"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "leigh-syndrome",
        "name": "Síndrome de Leigh",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Síndrome de Leigh",
            "genes": 69,
            "inheritance": null,
            "description": "Una enfermedad neurológica progresiva definida por características neuropatológicas específicas asociadas a lesiones en el tronco encefálico y los ganglios basales.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/es/conditions/leigh-syndrome"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Enfermedad mitocondrial primaria",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Deficiencia del complejo de la cadena respiratoria mitocondrial",
            "genes": 61,
            "inheritance": null,
            "description": "Deficiencias aisladas de los complejos I, II, III, IV o V, causadas por variantes en genes nucleares o mitocondriales, que pueden afectar al cerebro, los músculos, el corazón, el hígado y otros órganos que requieren mucha energía.",
            "management": "Conocer este resultado puede poner fin a una búsqueda diagnóstica y orientar el seguimiento de los órganos afectados y la evitación de fármacos tóxicos para las mitocondrias.",
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/es/conditions/primary-mitochondrial-disease"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Neuropatías periféricas hereditarias raras",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Neuropatía periférica hereditaria",
            "genes": 233,
            "inheritance": null,
            "description": "Causada por alteraciones en uno de los numerosos genes necesarios para mantener sanas las fibras nerviosas largas. En este informe se incluyen IGHMBP2 y PLEKHG5, que son recesivos.",
            "management": "La fisioterapia, las ortesis y la terapia ocupacional ayudan a mantener la movilidad, y se recurre a la cirugía para las deformidades del pie cuando es necesario. Algunas formas requieren seguimiento de la función respiratoria. El asesoramiento genético orienta el estudio de los familiares según el patrón de herencia del gen implicado.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/es/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-diffusion-weighted-cerebral-mri-morphology",
        "name": "Abnormal diffusion weighted cerebral MRI morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-diffusion-weighted-cerebral-mri-morphology"
      },
      {
        "slug": "abnormal-mitochondria-in-muscle-tissue",
        "name": "Abnormal mitochondria in muscle tissue",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-mitochondria-in-muscle-tissue"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "optic-neuropathy",
        "name": "Damaged optic nerve",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-neuropathy"
      },
      {
        "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": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "fetal-distress",
        "name": "Fetal distress",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fetal-distress"
      },
      {
        "slug": "focal-t2-hyperintense-brainstem-lesion",
        "name": "Focal T2 hyperintense brainstem lesion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/focal-t2-hyperintense-brainstem-lesion"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "increased-circulating-pyruvate-concentration",
        "name": "Increased circulating pyruvate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "mitochondrial-myopathy",
        "name": "Mitochondrial myopathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mitochondrial-myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "paroxysmal-involuntary-eye-movements",
        "name": "Paroxysmal involuntary eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-involuntary-eye-movements"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "proximal-tubulopathy",
        "name": "Proximal tubulopathy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proximal-tubulopathy"
      },
      {
        "slug": "respiratory-failure-requiring-assisted-ventilation",
        "name": "Respiratory failure requiring assisted ventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-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/es/genes/cox10"
      },
      {
        "slug": "foxred1",
        "symbol": "FOXRED1",
        "name": "FAD dependent oxidoreductase domain containing 1",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/foxred1"
      },
      {
        "slug": "lrpprc",
        "symbol": "LRPPRC",
        "name": "leucine rich pentatricopeptide repeat containing",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/lrpprc"
      },
      {
        "slug": "ndufa1",
        "symbol": "NDUFA1",
        "name": "NADH:ubiquinone oxidoreductase subunit A1",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/ndufa1"
      },
      {
        "slug": "ndufa13",
        "symbol": "NDUFA13",
        "name": "NADH:ubiquinone oxidoreductase subunit A13",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/ndufa13"
      },
      {
        "slug": "ndufa2",
        "symbol": "NDUFA2",
        "name": "NADH:ubiquinone oxidoreductase subunit A2",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/ndufa2"
      },
      {
        "slug": "ndufa9",
        "symbol": "NDUFA9",
        "name": "NADH:ubiquinone oxidoreductase subunit A9",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/ndufa9"
      },
      {
        "slug": "ndufaf2",
        "symbol": "NDUFAF2",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/ndufaf2"
      },
      {
        "slug": "ndufaf5",
        "symbol": "NDUFAF5",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/ndufaf5"
      },
      {
        "slug": "ndufaf6",
        "symbol": "NDUFAF6",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/ndufaf6"
      },
      {
        "slug": "ndufb8",
        "symbol": "NDUFB8",
        "name": "NADH:ubiquinone oxidoreductase subunit B8",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/ndufb8"
      },
      {
        "slug": "ndufs1",
        "symbol": "NDUFS1",
        "name": "NADH:ubiquinone oxidoreductase core subunit S1",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/ndufs1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}