{
  "url": "https://dantelabs.com/ro/genes/ndufaf2",
  "gene": {
    "slug": "ndufaf2",
    "symbol": "NDUFAF2",
    "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2",
    "hgnc": "HGNC:28086",
    "summary": null,
    "location": "5q12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "B17.2L",
      "MMTN",
      "mimitin"
    ],
    "previousSymbols": [
      "NDUFA12L"
    ],
    "ensemblId": "ENSG00000164182",
    "entrezId": 91942,
    "omim": [
      "609653"
    ],
    "uniprot": [
      "Q8N183"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 60945205,
      "end": 61153026,
      "strand": "+",
      "ensemblTranscript": "ENST00000296597.10",
      "refseqTranscript": "NM_174889.5",
      "ensemblProtein": "ENSP00000296597.5",
      "refseqProtein": "NP_777549.1",
      "exons": [
        {
          "start": 60945205,
          "end": 60945382
        },
        {
          "start": 61073125,
          "end": 61073214
        },
        {
          "start": 61098992,
          "end": 61099032
        },
        {
          "start": 61152704,
          "end": 61153026
        }
      ],
      "cds": {
        "start": 60945256,
        "end": 61152955
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 60240956,
      "end": 60448853,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 60549116,
      "end": 61549115,
      "genes": [
        {
          "symbol": "DEPDC1B",
          "ensemblId": "ENSG00000035499",
          "biotype": "protein_coding",
          "start": 60596912,
          "end": 60700199,
          "strand": "-",
          "slug": "depdc1b"
        },
        {
          "symbol": "ELOVL7",
          "ensemblId": "ENSG00000164181",
          "biotype": "protein_coding",
          "start": 60751791,
          "end": 60844589,
          "strand": "-",
          "slug": "elovl7"
        },
        {
          "symbol": "ERCC8",
          "ensemblId": "ENSG00000049167",
          "biotype": "protein_coding",
          "start": 60866454,
          "end": 60945078,
          "strand": "-",
          "slug": "ercc8"
        },
        {
          "symbol": "SMIM15",
          "ensemblId": "ENSG00000188725",
          "biotype": "protein_coding",
          "start": 61153910,
          "end": 61163142,
          "strand": "-",
          "slug": "smim15"
        },
        {
          "symbol": "ZSWIM6",
          "ensemblId": "ENSG00000130449",
          "biotype": "protein_coding",
          "start": 61332258,
          "end": 61546519,
          "strand": "+",
          "slug": "zswim6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "leigh-syndrome",
        "name": "Sindromul Leigh",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Sindromul Leigh",
            "genes": 69,
            "inheritance": null,
            "description": "Este o boală neurologică progresivă, definită prin anumite caracteristici neuropatologice care asociază leziuni ale trunchiului cerebral și ale ganglionilor bazali.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/leigh-syndrome"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Mitochondriale primare",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Deficit al complexului lanțului respirator mitocondrial",
            "genes": 61,
            "inheritance": null,
            "description": "Deficite izolate ale complexelor I, II, III, IV sau V, cauzate de variante în genele nucleare sau mitocondriale, care pot afecta creierul, mușchii, inima, ficatul și alte organe cu necesar mare de energie.",
            "management": "Cunoașterea acestui rezultat poate pune capăt căutării diagnosticului și poate ghida monitorizarea organelor afectate și evitarea medicamentelor toxice pentru mitocondrii.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/primary-mitochondrial-disease"
      }
    ],
    "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": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "central-hypoventilation",
        "name": "Central hypoventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/central-hypoventilation"
      },
      {
        "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": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "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"
        ],
        "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": "obligate",
        "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": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "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": "obligate",
        "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": "obligate",
        "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": "external-ophthalmoplegia",
        "name": "Paralysis or weakness of muscles within or surrounding outer part of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/external-ophthalmoplegia"
      },
      {
        "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": "sleep-apnea",
        "name": "Pauses in breathing while sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sleep-apnea"
      },
      {
        "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": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "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",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "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"
      },
      {
        "slug": "broad-based-gait",
        "name": "Wide based walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/broad-based-gait"
      }
    ],
    "related": [
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/cox10"
      },
      {
        "slug": "foxred1",
        "symbol": "FOXRED1",
        "name": "FAD dependent oxidoreductase domain containing 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/foxred1"
      },
      {
        "slug": "lrpprc",
        "symbol": "LRPPRC",
        "name": "leucine rich pentatricopeptide repeat containing",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/lrpprc"
      },
      {
        "slug": "ndufa1",
        "symbol": "NDUFA1",
        "name": "NADH:ubiquinone oxidoreductase subunit A1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ndufa1"
      },
      {
        "slug": "ndufa13",
        "symbol": "NDUFA13",
        "name": "NADH:ubiquinone oxidoreductase subunit A13",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ndufa13"
      },
      {
        "slug": "ndufa2",
        "symbol": "NDUFA2",
        "name": "NADH:ubiquinone oxidoreductase subunit A2",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ndufa2"
      },
      {
        "slug": "ndufa9",
        "symbol": "NDUFA9",
        "name": "NADH:ubiquinone oxidoreductase subunit A9",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ndufa9"
      },
      {
        "slug": "ndufaf5",
        "symbol": "NDUFAF5",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ndufaf5"
      },
      {
        "slug": "ndufaf6",
        "symbol": "NDUFAF6",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ndufaf6"
      },
      {
        "slug": "ndufaf8",
        "symbol": "NDUFAF8",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ndufaf8"
      },
      {
        "slug": "ndufb8",
        "symbol": "NDUFB8",
        "name": "NADH:ubiquinone oxidoreductase subunit B8",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ndufb8"
      },
      {
        "slug": "ndufs1",
        "symbol": "NDUFS1",
        "name": "NADH:ubiquinone oxidoreductase core subunit S1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ndufs1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}