{
  "url": "https://dantelabs.com/no/genes/fastkd2",
  "gene": {
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    "name": "FASTK mitochondrial RNA regulator 2",
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      "build": "GRCh37",
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    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "ZDBF2",
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          "end": 206393968,
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          "biotype": "protein_coding",
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          "strand": "-",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "cpo"
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          "symbol": "KLF7",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "klf7"
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      ],
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    },
    "reports": [
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        "slug": "primary-mitochondrial-disease",
        "name": "Primær mitokondriesykdom",
        "diseases": [
          {
            "mondoId": "MONDO:0000732",
            "name": "Kombinert mangel på oksidativ fosforylering",
            "genes": 48,
            "inheritance": null,
            "description": "Sykdommer, vanligvis forårsaket av kjernegener som er involvert i produksjonen av mitokondrielle proteiner. De reduserer flere respirasjonskjede-komplekser samtidig og gir ofte alvorlig sykdom i flere organsystemer i barndommen.",
            "management": "Å få vite dette kan avslutte en diagnostisk leting og veilede oppfølging og støttende behandling.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
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            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
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        "slug": "abnormal-basal-ganglia-mri-signal-intensity",
        "name": "Abnormal basal ganglia MRI signal intensity",
        "systems": [
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        ],
        "url": "https://dantelabs.com/traits/abnormal-basal-ganglia-mri-signal-intensity"
      },
      {
        "slug": "renal-tubular-dysfunction",
        "name": "Abnormal function of filtrating structures in kidney",
        "systems": [
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        ],
        "url": "https://dantelabs.com/traits/renal-tubular-dysfunction"
      },
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
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          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "cytochrome-c-oxidase-negative-muscle-fibers",
        "name": "Cytochrome C oxidase-negative muscle fibers",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cytochrome-c-oxidase-negative-muscle-fibers"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "decreased-liver-function",
        "name": "Decreased liver function",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-liver-function"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "dyskinesia",
        "name": "Disorder of involuntary muscle movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "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": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/glycosuria"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "hyperphosphaturia",
        "name": "High urine phosphate levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hyperphosphaturia"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hyporeflexia-of-lower-limbs",
        "name": "Hyporeflexia of lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia-of-lower-limbs"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "increased-hepatocellular-lipid-droplets",
        "name": "Increased hepatocellular lipid droplets",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/increased-hepatocellular-lipid-droplets"
      },
      {
        "slug": "increased-intramyocellular-lipid-droplets",
        "name": "Increased intramyocellular lipid droplets",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/increased-intramyocellular-lipid-droplets"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "truncal-ataxia",
        "name": "Instability or lack of coordination of central trunk muscles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/truncal-ataxia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "renal-fanconi-syndrome",
        "name": "Renal Fanconi syndrome",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-fanconi-syndrome"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "slurred-speech",
        "name": "Slurred speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slurred-speech"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      },
      {
        "slug": "ophthalmoparesis",
        "name": "Weakness of muscles controlling eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ophthalmoparesis"
      }
    ],
    "related": [
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aars2"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aifm1"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5f1e"
      },
      {
        "slug": "atp5po",
        "symbol": "ATP5PO",
        "name": "ATP synthase peripheral stalk subunit OSCP",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5po"
      },
      {
        "slug": "c1qbp",
        "symbol": "C1QBP",
        "name": "complement C1q binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/c1qbp"
      },
      {
        "slug": "c2orf69",
        "symbol": "C2orf69",
        "name": "chromosome 2 open reading frame 69",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/c2orf69"
      },
      {
        "slug": "cars2",
        "symbol": "CARS2",
        "name": "cysteinyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cars2"
      },
      {
        "slug": "crls1",
        "symbol": "CRLS1",
        "name": "cardiolipin synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/crls1"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ears2"
      },
      {
        "slug": "elac2",
        "symbol": "ELAC2",
        "name": "elaC ribonuclease Z 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/elac2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}