{
  "url": "https://dantelabs.com/sv/genes/gnal",
  "gene": {
    "slug": "gnal",
    "symbol": "GNAL",
    "name": "G protein subunit alpha L",
    "hgnc": "HGNC:4388",
    "summary": null,
    "location": "18p11.21",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
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    "entrezId": 2774,
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    "uniprot": [
      "P38405"
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      "release": "v1.5",
      "chrom": "18",
      "start": 11689264,
      "end": 11885685,
      "strand": "+",
      "ensemblTranscript": "ENST00000334049.11",
      "refseqTranscript": "NM_182978.4",
      "ensemblProtein": "ENSP00000334051.5",
      "refseqProtein": "NP_892023.1",
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
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      "end": 11885684,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 11287475,
      "end": 12287474,
      "genes": [
        {
          "symbol": "SLC35G4",
          "ensemblId": "ENSG00000236396",
          "biotype": "protein_coding",
          "start": 11609596,
          "end": 11610612,
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          "slug": "slc35g4"
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        {
          "symbol": "CHMP1B",
          "ensemblId": "ENSG00000255112",
          "biotype": "protein_coding",
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          "end": 11854444,
          "strand": "+",
          "slug": "chmp1b"
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        {
          "symbol": "MPPE1",
          "ensemblId": "ENSG00000154889",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "mppe1"
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        {
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          "slug": "impa2"
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        {
          "symbol": "ANKRD62",
          "ensemblId": "ENSG00000181626",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "ankrd62"
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        {
          "symbol": "CIDEA",
          "ensemblId": "ENSG00000176194",
          "biotype": "protein_coding",
          "start": 12254165,
          "end": 12277595,
          "strand": "+",
          "slug": "cidea"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dystonia-myotonia-paroxysmal-dyskinesia",
        "name": "Dystoni, myotoni, paroxysmal dyskinesi",
        "diseases": [
          {
            "mondoId": "MONDO:0014033",
            "name": "Dystoni 25",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Autosomalt dominant fokal dystoni, DYT25, är en form av fokal dystoni som kännetecknas av cervikal, laryngeal och hand-underarmsdystoni.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
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            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0044807",
            "name": "Ärftlig dystoni",
            "genes": 34,
            "inheritance": null,
            "description": "Samlingsbegrepp för ärftliga dystonier, inklusive DYT-TOR1A, generaliserad dystoni med tidig debut, DYT-THAP1, myoklonus-dystoni (SGCE) och KMT2B-relaterad dystoni.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
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            },
            "sameAsReport": false,
            "broad": false
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        ],
        "url": "https://dantelabs.com/sv/conditions/dystonia-myotonia-paroxysmal-dyskinesia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "craniofacial-dystonia",
        "name": "Abnormal craniofacial muscle tone",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/craniofacial-dystonia"
      },
      {
        "slug": "axial-dystonia",
        "name": "Axial dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axial-dystonia"
      },
      {
        "slug": "focal-dystonia",
        "name": "Focal dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/focal-dystonia"
      },
      {
        "slug": "dysphonia",
        "name": "Inability to produce voice sounds",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/dysphonia"
      },
      {
        "slug": "laryngeal-dystonia",
        "name": "Laryngeal dystonia",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/laryngeal-dystonia"
      },
      {
        "slug": "limb-dystonia",
        "name": "Limb dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-dystonia"
      },
      {
        "slug": "lingual-dystonia",
        "name": "Lingual dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lingual-dystonia"
      },
      {
        "slug": "torticollis",
        "name": "Wry neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/torticollis"
      }
    ],
    "related": [
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/actb"
      },
      {
        "slug": "ano3",
        "symbol": "ANO3",
        "name": "anoctamin 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ano3"
      },
      {
        "slug": "arfgef3",
        "symbol": "ARFGEF3",
        "name": "ARFGEF family member 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/arfgef3"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp1a3"
      },
      {
        "slug": "bcap31",
        "symbol": "BCAP31",
        "name": "B cell receptor associated protein 31",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/bcap31"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/col6a3"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "name": "DDB1 and CUL4 associated factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dcaf17"
      },
      {
        "slug": "gch1",
        "symbol": "GCH1",
        "name": "GTP cyclohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gch1"
      },
      {
        "slug": "hpca",
        "symbol": "HPCA",
        "name": "hippocalcin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/hpca"
      },
      {
        "slug": "kcnj10",
        "symbol": "KCNJ10",
        "name": "potassium inwardly rectifying channel subfamily J member 10",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/kcnj10"
      },
      {
        "slug": "kctd17",
        "symbol": "KCTD17",
        "name": "potassium channel tetramerization domain containing 17",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/kctd17"
      },
      {
        "slug": "kmt2b",
        "symbol": "KMT2B",
        "name": "lysine methyltransferase 2B",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/kmt2b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}