{
  "url": "https://dantelabs.com/sv/genes/ndufaf5",
  "gene": {
    "slug": "ndufaf5",
    "symbol": "NDUFAF5",
    "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5",
    "hgnc": "HGNC:15899",
    "summary": null,
    "location": "20p12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "dJ842G6.1"
    ],
    "previousSymbols": [
      "C20orf7"
    ],
    "ensemblId": "ENSG00000101247",
    "entrezId": 79133,
    "omim": [
      "612360"
    ],
    "uniprot": [
      "Q5TEU4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 13785028,
      "end": 13821580,
      "strand": "+",
      "ensemblTranscript": "ENST00000378106.10",
      "refseqTranscript": "NM_024120.5",
      "ensemblProtein": "ENSP00000367346.5",
      "refseqProtein": "NP_077025.2",
      "exons": [
        {
          "start": 13785028,
          "end": 13785290
        },
        {
          "start": 13787312,
          "end": 13787352
        },
        {
          "start": 13788589,
          "end": 13788652
        },
        {
          "start": 13793180,
          "end": 13793227
        },
        {
          "start": 13794838,
          "end": 13794941
        },
        {
          "start": 13798461,
          "end": 13798500
        },
        {
          "start": 13801486,
          "end": 13801683
        },
        {
          "start": 13808842,
          "end": 13808902
        },
        {
          "start": 13816463,
          "end": 13816546
        },
        {
          "start": 13816875,
          "end": 13816957
        },
        {
          "start": 13817118,
          "end": 13821580
        }
      ],
      "cds": {
        "start": 13785069,
        "end": 13817210
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 13765596,
      "end": 13799067,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 13303304,
      "end": 14303303,
      "genes": [
        {
          "symbol": "TASP1",
          "ensemblId": "ENSG00000089123",
          "biotype": "protein_coding",
          "start": 13387216,
          "end": 13639109,
          "strand": "-",
          "slug": "tasp1"
        },
        {
          "symbol": "ESF1",
          "ensemblId": "ENSG00000089048",
          "biotype": "protein_coding",
          "start": 13714322,
          "end": 13785409,
          "strand": "-",
          "slug": "esf1"
        },
        {
          "symbol": "SEL1L2",
          "ensemblId": "ENSG00000101251",
          "biotype": "protein_coding",
          "start": 13849247,
          "end": 13996443,
          "strand": "-",
          "slug": "sel1l2"
        },
        {
          "symbol": "MACROD2",
          "ensemblId": "ENSG00000172264",
          "biotype": "protein_coding",
          "start": 13995369,
          "end": 16053197,
          "strand": "+",
          "slug": "macrod2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "leigh-syndrome",
        "name": "Leighs syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Leighs syndrom",
            "genes": 69,
            "inheritance": null,
            "description": "En progressiv neurologisk sjukdom som definieras av specifika neuropatologiska drag, med skador i hjärnstammen och basala ganglier.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/leigh-syndrome"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primär mitokondriell sjukdom",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Brist på mitokondriella andningskedjekomplex",
            "genes": 61,
            "inheritance": null,
            "description": "Isolerad brist på komplex I, II, III, IV eller V, orsakad av varianter i kärngener eller mitokondriella gener. Den kan påverka hjärnan, musklerna, hjärtat, levern och andra organ med högt energibehov.",
            "management": "Kunskapen kan avsluta en diagnostisk sökning och vägleda uppföljning av drabbade organ och undvikande av läkemedel som är toxiska för mitokondrierna.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/primary-mitochondrial-disease"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Sällsynta ärftliga perifera neuropatier",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Ärftlig perifer neuropati",
            "genes": 233,
            "inheritance": null,
            "description": "Orsakas av förändringar i någon av de många gener som behövs för att hålla de långa nervfibrerna friska. I denna rapport ingår bland annat IGHMBP2 och PLEKHG5, som är recessiva.",
            "management": "Sjukgymnastik, ortoser och arbetsterapi hjälper till att bibehålla rörligheten, och kirurgi vid fotdeformiteter görs vid behov. Vissa former kräver uppföljning av andningen. Genetisk rådgivning vägleder släktingstestning utifrån gens ärftlighetsmönster.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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": "adrenal-insufficiency",
        "name": "Adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/adrenal-insufficiency"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "aplasia-of-the-left-hemidiaphragm",
        "name": "Aplasia of the left hemidiaphragm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aplasia-of-the-left-hemidiaphragm"
      },
      {
        "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": "caudate-atrophy",
        "name": "Caudate atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/caudate-atrophy"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "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": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "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"
        ],
        "frequency": "very-rare",
        "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": "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": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "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-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": "obligate",
        "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": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "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": "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"
        ],
        "frequency": "very-rare",
        "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": "obligate",
        "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-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "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": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "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/sv/genes/cox10"
      },
      {
        "slug": "foxred1",
        "symbol": "FOXRED1",
        "name": "FAD dependent oxidoreductase domain containing 1",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/foxred1"
      },
      {
        "slug": "lrpprc",
        "symbol": "LRPPRC",
        "name": "leucine rich pentatricopeptide repeat containing",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/lrpprc"
      },
      {
        "slug": "ndufa1",
        "symbol": "NDUFA1",
        "name": "NADH:ubiquinone oxidoreductase subunit A1",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufa1"
      },
      {
        "slug": "ndufa13",
        "symbol": "NDUFA13",
        "name": "NADH:ubiquinone oxidoreductase subunit A13",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufa13"
      },
      {
        "slug": "ndufa2",
        "symbol": "NDUFA2",
        "name": "NADH:ubiquinone oxidoreductase subunit A2",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufa2"
      },
      {
        "slug": "ndufa9",
        "symbol": "NDUFA9",
        "name": "NADH:ubiquinone oxidoreductase subunit A9",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufa9"
      },
      {
        "slug": "ndufaf2",
        "symbol": "NDUFAF2",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufaf2"
      },
      {
        "slug": "ndufaf6",
        "symbol": "NDUFAF6",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufaf6"
      },
      {
        "slug": "ndufaf8",
        "symbol": "NDUFAF8",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufaf8"
      },
      {
        "slug": "ndufb8",
        "symbol": "NDUFB8",
        "name": "NADH:ubiquinone oxidoreductase subunit B8",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufb8"
      },
      {
        "slug": "ndufs1",
        "symbol": "NDUFS1",
        "name": "NADH:ubiquinone oxidoreductase core subunit S1",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufs1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}