{
  "url": "https://dantelabs.com/fi/genes/tk2",
  "gene": {
    "slug": "tk2",
    "symbol": "TK2",
    "name": "thymidine kinase 2",
    "hgnc": "HGNC:11831",
    "summary": null,
    "location": "16q21",
    "locusType": "gene with protein product",
    "aliases": [
      "SCA31"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000166548",
    "entrezId": 7084,
    "omim": [
      "188250"
    ],
    "uniprot": [
      "O00142"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 66508003,
      "end": 66550122,
      "strand": "-",
      "ensemblTranscript": "ENST00000544898.6",
      "refseqTranscript": "NM_004614.5",
      "ensemblProtein": "ENSP00000440898.2",
      "refseqProtein": "NP_004605.4",
      "exons": [
        {
          "start": 66508003,
          "end": 66512066
        },
        {
          "start": 66513731,
          "end": 66513811
        },
        {
          "start": 66517136,
          "end": 66517215
        },
        {
          "start": 66517789,
          "end": 66517877
        },
        {
          "start": 66528994,
          "end": 66529067
        },
        {
          "start": 66531380,
          "end": 66531469
        },
        {
          "start": 66536964,
          "end": 66537017
        },
        {
          "start": 66541879,
          "end": 66541953
        },
        {
          "start": 66548978,
          "end": 66549009
        },
        {
          "start": 66549938,
          "end": 66550122
        }
      ],
      "cds": {
        "start": 66511968,
        "end": 66550061
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 66541906,
      "end": 66586447,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 66029063,
      "end": 67029062,
      "genes": [
        {
          "symbol": "CDH5",
          "ensemblId": "ENSG00000179776",
          "biotype": "protein_coding",
          "start": 66366588,
          "end": 66404784,
          "strand": "+",
          "slug": "cdh5"
        },
        {
          "symbol": "BEAN1",
          "ensemblId": "ENSG00000166546",
          "biotype": "protein_coding",
          "start": 66426947,
          "end": 66493529,
          "strand": "+",
          "slug": "bean1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000260851",
          "biotype": "protein_coding",
          "start": 66469812,
          "end": 66517312,
          "strand": "-"
        },
        {
          "symbol": "CKLF",
          "ensemblId": "ENSG00000217555",
          "biotype": "protein_coding",
          "start": 66552563,
          "end": 66566251,
          "strand": "+",
          "slug": "cklf"
        },
        {
          "symbol": "CKLF-CMTM1",
          "ensemblId": "ENSG00000254788",
          "biotype": "protein_coding",
          "start": 66552587,
          "end": 66579135,
          "strand": "+",
          "slug": "cklf-cmtm1"
        },
        {
          "symbol": "CMTM1",
          "ensemblId": "ENSG00000089505",
          "biotype": "protein_coding",
          "start": 66566393,
          "end": 66579137,
          "strand": "+",
          "slug": "cmtm1"
        },
        {
          "symbol": "CMTM2",
          "ensemblId": "ENSG00000140932",
          "biotype": "protein_coding",
          "start": 66579432,
          "end": 66588280,
          "strand": "+",
          "slug": "cmtm2"
        },
        {
          "symbol": "CMTM3",
          "ensemblId": "ENSG00000140931",
          "biotype": "protein_coding",
          "start": 66603874,
          "end": 66613892,
          "strand": "+",
          "slug": "cmtm3"
        },
        {
          "symbol": "CMTM4",
          "ensemblId": "ENSG00000183723",
          "biotype": "protein_coding",
          "start": 66614750,
          "end": 66696856,
          "strand": "-",
          "slug": "cmtm4"
        },
        {
          "symbol": "DYNC1LI2",
          "ensemblId": "ENSG00000135720",
          "biotype": "protein_coding",
          "start": 66720893,
          "end": 66751856,
          "strand": "-",
          "slug": "dync1li2"
        },
        {
          "symbol": "TERB1",
          "ensemblId": "ENSG00000249961",
          "biotype": "protein_coding",
          "start": 66754640,
          "end": 66801620,
          "strand": "-",
          "slug": "terb1"
        },
        {
          "symbol": "NAE1",
          "ensemblId": "ENSG00000159593",
          "biotype": "protein_coding",
          "start": 66802874,
          "end": 66873256,
          "strand": "-",
          "slug": "nae1"
        },
        {
          "symbol": "CA7",
          "ensemblId": "ENSG00000168748",
          "biotype": "protein_coding",
          "start": 66844414,
          "end": 66854153,
          "strand": "+",
          "slug": "ca7"
        },
        {
          "symbol": "PDP2",
          "ensemblId": "ENSG00000172840",
          "biotype": "protein_coding",
          "start": 66878589,
          "end": 66895754,
          "strand": "+",
          "slug": "pdp2"
        },
        {
          "symbol": "CDH16",
          "ensemblId": "ENSG00000166589",
          "biotype": "protein_coding",
          "start": 66908122,
          "end": 66919187,
          "strand": "-",
          "slug": "cdh16"
        },
        {
          "symbol": "RRAD",
          "ensemblId": "ENSG00000166592",
          "biotype": "protein_coding",
          "start": 66921682,
          "end": 66926308,
          "strand": "-",
          "slug": "rrad"
        },
        {
          "symbol": "CIAO2B",
          "ensemblId": "ENSG00000166595",
          "biotype": "protein_coding",
          "start": 66931938,
          "end": 66934929,
          "strand": "-",
          "slug": "ciao2b"
        },
        {
          "symbol": "CES2",
          "ensemblId": "ENSG00000172831",
          "biotype": "protein_coding",
          "start": 66934433,
          "end": 66945096,
          "strand": "+",
          "slug": "ces2"
        },
        {
          "symbol": "CES3",
          "ensemblId": "ENSG00000172828",
          "biotype": "protein_coding",
          "start": 66961219,
          "end": 66975162,
          "strand": "+",
          "slug": "ces3"
        },
        {
          "symbol": "CES4A",
          "ensemblId": "ENSG00000172824",
          "biotype": "protein_coding",
          "start": 66988574,
          "end": 67010417,
          "strand": "+",
          "slug": "ces4a"
        },
        {
          "symbol": "CBFB",
          "ensemblId": "ENSG00000067955",
          "biotype": "protein_coding",
          "start": 67028984,
          "end": 67101058,
          "strand": "+",
          "slug": "cbfb"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primaarinen mitokondriosairaus",
        "diseases": [
          {
            "mondoId": "MONDO:0018158",
            "name": "Mitokondrion DNA:n vähenemän oireyhtymä",
            "genes": 20,
            "inheritance": null,
            "description": "Aiheuttajina ovat tumagenomin geenien, kuten POLG, TWNK, TK2, DGUOK, MPV17, RRM2B ja SUCLA2, variantit. Ne vähentävät mitokondrion DNA:n määrää ja voivat aiheuttaa lihas-, maksa- tai aivosairauden.",
            "management": "Tieto on suoraan hyödynnettävissä: POLG-sairaudessa valproaattia on vältettävä, koska se voi aiheuttaa hengenvaarallisen maksavaurion, ja TK2-puutokseen on olemassa nukleosidihoito.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-basal-ganglia-morphology",
        "name": "Abnormal basal ganglia morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-basal-ganglia-morphology"
      },
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "abnormal-cerebrospinal-fluid-morphology",
        "name": "Abnormal cerebrospinal fluid morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebrospinal-fluid-morphology"
      },
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "action-tremor",
        "name": "Action tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/action-tremor"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "cogwheel-rigidity",
        "name": "Cogwheel rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cogwheel-rigidity"
      },
      {
        "slug": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyschromatopsia"
      },
      {
        "slug": "cytochrome-c-oxidase-negative-muscle-fibers",
        "name": "Cytochrome C oxidase-negative muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cytochrome-c-oxidase-negative-muscle-fibers"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-atp-synthase-complex",
        "name": "Decreased activity of mitochondrial ATP synthase complex",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-atp-synthase-complex"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iii",
        "name": "Decreased activity of mitochondrial complex III",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iii"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "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"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "depletion-of-mitochondrial-dna-in-muscle-tissue",
        "name": "Depletion of mitochondrial DNA in muscle tissue",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/depletion-of-mitochondrial-dna-in-muscle-tissue"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "generalized-amyotrophy",
        "name": "Diffuse skeletal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-amyotrophy"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "emg-myopathic-abnormalities",
        "name": "EMG: myopathic abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "mask-like-facies",
        "name": "Expressionless face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mask-like-facies"
      },
      {
        "slug": "facial-diplegia",
        "name": "Facial diplegia",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/facial-diplegia"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "gowers-sign",
        "name": "Gowers sign",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "hand-muscle-weakness",
        "name": "Hand muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hand-muscle-weakness"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "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": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "limb-muscle-weakness",
        "name": "Limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/limb-muscle-weakness"
      },
      {
        "slug": "loss-of-ability-to-walk-in-early-childhood",
        "name": "Loss of ability to walk in early childhood",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/loss-of-ability-to-walk-in-early-childhood"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "mitochondrial-myopathy",
        "name": "Mitochondrial myopathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mitochondrial-myopathy"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-fiber-atrophy",
        "name": "Muscle fiber degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-fiber-atrophy"
      },
      {
        "slug": "muscle-stiffness",
        "name": "Muscle stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-stiffness"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-neuritis",
        "name": "Optic neuritis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-neuritis"
      },
      {
        "slug": "external-ophthalmoplegia",
        "name": "Paralysis or weakness of muscles within or surrounding outer part of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/external-ophthalmoplegia"
      },
      {
        "slug": "parkinsonism-with-favorable-response-to-dopaminergic-medication",
        "name": "Parkinsonism with favorable response to dopaminergic medication",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/parkinsonism-with-favorable-response-to-dopaminergic-medication"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "paresthesia",
        "name": "Pins and needles feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paresthesia"
      },
      {
        "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": "progressive-external-ophthalmoplegia",
        "name": "Progressive external ophthalmoplegia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progressive-external-ophthalmoplegia"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "ragged-red-muscle-fibers",
        "name": "Ragged-red muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ragged-red-muscle-fibers"
      },
      {
        "slug": "abnormal-retinal-morphology",
        "name": "Retina issue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-retinal-morphology"
      },
      {
        "slug": "sensory-axonal-neuropathy",
        "name": "Sensory axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensory-axonal-neuropathy"
      },
      {
        "slug": "shuffling-gait",
        "name": "Shuffled walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/shuffling-gait"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bradykinesia"
      },
      {
        "slug": "stooped-posture",
        "name": "Stooped posture",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stooped-posture"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "weak-voice",
        "name": "Weak voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/weak-voice"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      },
      {
        "slug": "scapular-winging",
        "name": "Winged shoulder blade",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scapular-winging"
      }
    ],
    "related": [
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/afg3l2"
      },
      {
        "slug": "agk",
        "symbol": "AGK",
        "name": "acylglycerol kinase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/agk"
      },
      {
        "slug": "dguok",
        "symbol": "DGUOK",
        "name": "deoxyguanosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dguok"
      },
      {
        "slug": "dna2",
        "symbol": "DNA2",
        "name": "DNA replication helicase/nuclease 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dna2"
      },
      {
        "slug": "fbxl4",
        "symbol": "FBXL4",
        "name": "F-box and leucine rich repeat protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/fbxl4"
      },
      {
        "slug": "guk1",
        "symbol": "GUK1",
        "name": "guanylate kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/guk1"
      },
      {
        "slug": "lig3",
        "symbol": "LIG3",
        "name": "DNA ligase 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/lig3"
      },
      {
        "slug": "mgme1",
        "symbol": "MGME1",
        "name": "mitochondrial genome maintenance exonuclease 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/mgme1"
      },
      {
        "slug": "mpv17",
        "symbol": "MPV17",
        "name": "mitochondrial inner membrane protein MPV17",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/mpv17"
      },
      {
        "slug": "mrm2",
        "symbol": "MRM2",
        "name": "mitochondrial rRNA methyltransferase 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/mrm2"
      },
      {
        "slug": "opa1",
        "symbol": "OPA1",
        "name": "OPA1 mitochondrial dynamin like GTPase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/opa1"
      },
      {
        "slug": "polg",
        "symbol": "POLG",
        "name": "DNA polymerase gamma, catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/polg"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}