{
  "url": "https://dantelabs.com/da/genes/sgce",
  "gene": {
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    "name": "sarcoglycan epsilon",
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    "aliases": [],
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    },
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        {
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        {
          "symbol": "PEG10",
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      ],
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    },
    "reports": [
      {
        "slug": "dystonia-myotonia-paroxysmal-dyskinesia",
        "name": "Dystoni, myotoni, paroksysmal dyskinesi",
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          {
            "mondoId": "MONDO:0044807",
            "name": "Arvelig dystoni",
            "genes": 34,
            "inheritance": null,
            "description": "Samlebetegnelse for arvelige dystonier, herunder DYT-TOR1A generaliseret dystoni med tidligt debut, DYT-THAP1, myoklonus-dystoni (SGCE) og KMT2B-relateret dystoni.",
            "management": null,
            "evidence": {
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                "Ambry Genetics",
                "Genomics England PanelApp",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
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              "acmgSf": false,
              "inheritance": [
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            "sameAsReport": false,
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        ],
        "url": "https://dantelabs.com/da/conditions/dystonia-myotonia-paroxysmal-dyskinesia"
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    ],
    "pharmacogenomics": [],
    "traits": [],
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        "systems": [
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        "url": "https://dantelabs.com/traits/addictive-alcohol-use"
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        "url": "https://dantelabs.com/traits/anxiety"
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arm-dystonia"
      },
      {
        "slug": "axial-dystonia",
        "name": "Axial dystonia",
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        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/axial-dystonia"
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      {
        "slug": "decreased-csf-5-hydroxyindoleacetic-acid-concentration",
        "name": "Decreased CSF 5-hydroxyindoleacetic acid concentration",
        "systems": [
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          "abnormality-of-the-nervous-system"
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-csf-5-hydroxyindoleacetic-acid-concentration"
      },
      {
        "slug": "decreased-csf-homovanillic-acid-concentration",
        "name": "Decreased CSF homovanillic acid concentration",
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        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-csf-homovanillic-acid-concentration"
      },
      {
        "slug": "depression",
        "name": "Depression",
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
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        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "agoraphobia",
        "name": "Fear of open spaces",
        "systems": [
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        "url": "https://dantelabs.com/traits/agoraphobia"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "leg-dystonia",
        "name": "Leg dystonia",
        "systems": [
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        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/leg-dystonia"
      },
      {
        "slug": "limb-myoclonus",
        "name": "Limb myoclonus",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-myoclonus"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "compulsive-behaviors",
        "name": "Obsessive compulsive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/compulsive-behaviors"
      },
      {
        "slug": "panic-attack",
        "name": "Panic attack",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/panic-attack"
      },
      {
        "slug": "personality-disorder",
        "name": "Personality disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/personality-disorder"
      },
      {
        "slug": "spinal-myoclonus",
        "name": "Spinal myoclonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spinal-myoclonus"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "writer-s-cramp",
        "name": "Writer's cramp",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/writer-s-cramp"
      },
      {
        "slug": "torticollis",
        "name": "Wry neck",
        "systems": [
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          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/torticollis"
      }
    ],
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      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/actb"
      },
      {
        "slug": "ano3",
        "symbol": "ANO3",
        "name": "anoctamin 3",
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        "url": "https://dantelabs.com/da/genes/ano3"
      },
      {
        "slug": "arfgef3",
        "symbol": "ARFGEF3",
        "name": "ARFGEF family member 3",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/arfgef3"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/atp1a3"
      },
      {
        "slug": "bcap31",
        "symbol": "BCAP31",
        "name": "B cell receptor associated protein 31",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/bcap31"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/col6a3"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "name": "DDB1 and CUL4 associated factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/dcaf17"
      },
      {
        "slug": "gch1",
        "symbol": "GCH1",
        "name": "GTP cyclohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/gch1"
      },
      {
        "slug": "gnal",
        "symbol": "GNAL",
        "name": "G protein subunit alpha L",
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        "url": "https://dantelabs.com/da/genes/gnal"
      },
      {
        "slug": "hpca",
        "symbol": "HPCA",
        "name": "hippocalcin",
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        "url": "https://dantelabs.com/da/genes/hpca"
      },
      {
        "slug": "kcnj10",
        "symbol": "KCNJ10",
        "name": "potassium inwardly rectifying channel subfamily J member 10",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/kcnj10"
      },
      {
        "slug": "kctd17",
        "symbol": "KCTD17",
        "name": "potassium channel tetramerization domain containing 17",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/kctd17"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}