{
  "url": "https://dantelabs.com/no/genes/pygm",
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        {
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        {
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        {
          "symbol": "PPP2R5B",
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        {
          "symbol": "GPHA2",
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        {
          "symbol": "MAJIN",
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        {
          "symbol": "BATF2",
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        {
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        {
          "symbol": "ARL2-SNX15",
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        {
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        {
          "symbol": "SAC3D1",
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        {
          "symbol": "NAALADL1",
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        {
          "symbol": "CDCA5",
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        {
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        },
        {
          "symbol": "CATSPERH",
          "ensemblId": "ENSG00000187066",
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        {
          "symbol": "VPS51",
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        },
        {
          "symbol": "TM7SF2",
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          "slug": "tm7sf2"
        },
        {
          "symbol": "ZNHIT2",
          "ensemblId": "ENSG00000174276",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "znhit2"
        },
        {
          "symbol": "FAU",
          "ensemblId": "ENSG00000149806",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fau"
        },
        {
          "symbol": "SYVN1",
          "ensemblId": "ENSG00000162298",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "syvn1"
        },
        {
          "symbol": "MRPL49",
          "ensemblId": "ENSG00000149792",
          "biotype": "protein_coding",
          "start": 65122183,
          "end": 65127371,
          "strand": "+",
          "slug": "mrpl49"
        },
        {
          "symbol": "SPDYC",
          "ensemblId": "ENSG00000204710",
          "biotype": "protein_coding",
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          "end": 65173380,
          "strand": "+",
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        },
        {
          "symbol": "CAPN1",
          "ensemblId": "ENSG00000014216",
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          "end": 65212006,
          "strand": "+",
          "slug": "capn1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "mcardle-s-disease",
        "name": "McArdles sykdom",
        "diseases": [
          {
            "mondoId": "MONDO:0009293",
            "name": "Glykogenlagringssykdom V",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Myofosforylasemangel (McArdles sykdom), eller glykogenlagringssykdom type 5 (GSD5), er en alvorlig form av glykogenlagringssykdom som kjennetegnes av redusert utholdenhet ved fysisk anstrengelse.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 9
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/mcardle-s-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "acute-kidney-injury",
        "name": "Acute kidney injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-kidney-injury"
      },
      {
        "slug": "rhabdomyolysis",
        "name": "Breakdown of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rhabdomyolysis"
      },
      {
        "slug": "impaired-mastication",
        "name": "Chewing difficulties",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/impaired-mastication"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "dark-urine",
        "name": "Dark urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dark-urine"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "exercise-induced-muscle-cramps",
        "name": "Exercise-induced muscle cramps",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-induced-muscle-cramps"
      },
      {
        "slug": "exercise-induced-myalgia",
        "name": "Exercise-induced muscle pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-induced-myalgia"
      },
      {
        "slug": "exercise-induced-muscle-stiffness",
        "name": "Exercise-induced muscle stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-induced-muscle-stiffness"
      },
      {
        "slug": "exercise-induced-myoglobinuria",
        "name": "Exercise-induced myoglobinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-induced-myoglobinuria"
      },
      {
        "slug": "exercise-induced-rhabdomyolysis",
        "name": "Exercise-induced rhabdomyolysis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/exercise-induced-rhabdomyolysis"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "failure-to-elevate-ammonia-on-ischemic-exercise",
        "name": "Failure to elevate ammonia on ischemic exercise",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-elevate-ammonia-on-ischemic-exercise"
      },
      {
        "slug": "failure-to-elevate-lactate-upon-ischemic-exercise-test",
        "name": "Failure to elevate lactate upon ischemic exercise test",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/failure-to-elevate-lactate-upon-ischemic-exercise-test"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "glycogen-accumulation-in-muscle-fiber-lysosomes",
        "name": "Glycogen accumulation in muscle fiber lysosomes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glycogen-accumulation-in-muscle-fiber-lysosomes"
      },
      {
        "slug": "hyperuricemia",
        "name": "High blood uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperuricemia"
      },
      {
        "slug": "highly-elevated-creatine-kinase",
        "name": "Highly elevated creatine kinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/highly-elevated-creatine-kinase"
      },
      {
        "slug": "increased-muscle-glycogen-content",
        "name": "Increased muscle glycogen content",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-muscle-glycogen-content"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "myoglobinuria",
        "name": "Myoglobinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoglobinuria"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "postexertional-symptom-exacerbation",
        "name": "Postexertional symptom exacerbation",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postexertional-symptom-exacerbation"
      },
      {
        "slug": "progressive-proximal-muscle-weakness",
        "name": "Progressive proximal muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-proximal-muscle-weakness"
      },
      {
        "slug": "recurrent-myoglobinuria",
        "name": "Recurrent myoglobinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-myoglobinuria"
      },
      {
        "slug": "reduced-muscle-glycogen-phosphorylase-activity",
        "name": "Reduced muscle glycogen phosphorylase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-muscle-glycogen-phosphorylase-activity"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}