{
  "url": "https://dantelabs.com/fr/genes/serpini1",
  "gene": {
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    "symbol": "SERPINI1",
    "name": "serpin family I member 1",
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    "location": "3q26.1",
    "locusType": "gene with protein product",
    "aliases": [],
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      "ensemblTranscript": "ENST00000446050.7",
      "refseqTranscript": "NM_001122752.2",
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    },
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    "neighbourhood": {
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        {
          "symbol": "ZBBX",
          "ensemblId": "ENSG00000169064",
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          "end": 167407874,
          "strand": "-",
          "slug": "zbbx"
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        {
          "symbol": "SERPINI2",
          "ensemblId": "ENSG00000114204",
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          "slug": "serpini2"
        },
        {
          "symbol": "WDR49",
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        {
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        {
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      ],
      "truncated": false
    },
    "reports": [
      {
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        "name": "Épilepsie (panel complet)",
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          {
            "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": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
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            "sameAsReport": false,
            "broad": true
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        ],
        "url": "https://dantelabs.com/fr/conditions/epilepsy-report"
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    ],
    "pharmacogenomics": [],
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        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
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        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
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        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
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        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
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        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
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        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "diplopia",
        "name": "Double vision",
        "systems": [
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        "url": "https://dantelabs.com/traits/diplopia"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
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        ],
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "eosinophilic-neuronal-inclusion-bodies",
        "name": "Eosinophilic neuronal inclusion bodies",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eosinophilic-neuronal-inclusion-bodies"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "gliosis",
        "name": "Gliosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gliosis"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "neuronal-loss-in-central-nervous-system",
        "name": "Loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/neuronal-loss-in-central-nervous-system"
      }
    ],
    "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": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}