{
  "url": "https://dantelabs.com/fr/genes/gabrb1",
  "gene": {
    "slug": "gabrb1",
    "symbol": "GABRB1",
    "name": "gamma-aminobutyric acid type A receptor subunit beta1",
    "hgnc": "HGNC:4081",
    "summary": null,
    "location": "4p12",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000163288",
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      "chrom": "4",
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      "strand": "+",
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      "refseqTranscript": "NM_000812.4",
      "ensemblProtein": "ENSP00000295454.3",
      "refseqProtein": "NP_000803.2",
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    },
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      "build": "GRCh37",
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      "end": 47428461,
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    },
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      "genes": [
        {
          "symbol": "COX7B2",
          "ensemblId": "ENSG00000170516",
          "biotype": "protein_coding",
          "start": 46734823,
          "end": 46909254,
          "strand": "-",
          "slug": "cox7b2"
        },
        {
          "symbol": "GABRA4",
          "ensemblId": "ENSG00000109158",
          "biotype": "protein_coding",
          "start": 46918900,
          "end": 46993590,
          "strand": "-",
          "slug": "gabra4"
        },
        {
          "symbol": "COMMD8",
          "ensemblId": "ENSG00000169019",
          "biotype": "protein_coding",
          "start": 47441586,
          "end": 47463730,
          "strand": "-",
          "slug": "commd8"
        },
        {
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          "ensemblId": "ENSG00000145246",
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          "strand": "+",
          "slug": "atp10d"
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        {
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          "start": 47593999,
          "end": 47838151,
          "strand": "-",
          "slug": "corin"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epilepsy-report",
        "name": "Épilepsie (panel complet)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Épilepsie",
            "genes": 171,
            "inheritance": null,
            "description": "Un trouble cérébral caractérisé par des épisodes de décharges neuronales anormalement intenses, entraînant des manifestations neurologiques transitoires d'ordre sensoriel, moteur ou psychologique. Ces épisodes peuvent s'accompagner ou non d'une perte de connaissance ou de convulsions.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
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            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/epilepsy-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epileptic-encephalopathy",
        "name": "Epileptic encephalopathy",
        "systems": [
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epileptic-encephalopathy"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
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        ],
        "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": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aars1"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "name": "4-aminobutyrate aminotransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/abat"
      },
      {
        "slug": "actl6b",
        "symbol": "ACTL6B",
        "name": "actin like 6B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/actl6b"
      },
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "name": "ADAM metallopeptidase domain 22",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/adam22"
      },
      {
        "slug": "aldh7a1",
        "symbol": "ALDH7A1",
        "name": "aldehyde dehydrogenase 7 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aldh7a1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/alg13"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap3b2"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "name": "ARV1 fatty acid homeostasis modulator",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arx"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp1a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}