{
  "url": "https://dantelabs.com/de/genes/prickle1",
  "gene": {
    "slug": "prickle1",
    "symbol": "PRICKLE1",
    "name": "prickle planar cell polarity protein 1",
    "hgnc": "HGNC:17019",
    "summary": null,
    "location": "12q12",
    "locusType": "gene with protein product",
    "aliases": [
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      "EPM1B",
      "RILP"
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    "previousSymbols": [],
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    "uniprot": [
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      "strand": "-",
      "ensemblTranscript": "ENST00000345127.9",
      "refseqTranscript": "NM_153026.3",
      "ensemblProtein": "ENSP00000345064.3",
      "refseqProtein": "NP_694571.2",
      "exons": [
        {
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        {
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    },
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      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
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      "end": 42984157,
      "strand": "-"
    },
    "neighbourhood": {
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      "end": 43023251,
      "genes": [
        {
          "symbol": "GXYLT1",
          "ensemblId": "ENSG00000151233",
          "biotype": "protein_coding",
          "start": 42081845,
          "end": 42144888,
          "strand": "-",
          "slug": "gxylt1"
        },
        {
          "symbol": "YAF2",
          "ensemblId": "ENSG00000015153",
          "biotype": "protein_coding",
          "start": 42157104,
          "end": 42238368,
          "strand": "-",
          "slug": "yaf2"
        },
        {
          "symbol": "PPHLN1",
          "ensemblId": "ENSG00000134283",
          "biotype": "protein_coding",
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          "end": 42459715,
          "strand": "+",
          "slug": "pphln1"
        },
        {
          "symbol": "ZCRB1",
          "ensemblId": "ENSG00000139168",
          "biotype": "protein_coding",
          "start": 42303157,
          "end": 42326257,
          "strand": "-",
          "slug": "zcrb1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epilepsy-report",
        "name": "Epilepsie (Komplettpanel)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Epilepsie",
            "genes": 171,
            "inheritance": null,
            "description": "Eine Erkrankung des Gehirns, die durch Episoden abnorm gesteigerter neuronaler Entladungen gekennzeichnet ist. Diese führen zu vorübergehenden sensorischen, motorischen oder psychischen Funktionsstörungen und können mit oder ohne Bewusstseinsverlust oder Krämpfe auftreten.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
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            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/de/conditions/epilepsy-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
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        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "eeg-with-polyspike-wave-complexes",
        "name": "EEG with polyspike wave complexes",
        "systems": [
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        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eeg-with-polyspike-wave-complexes"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "morning-myoclonic-jerks",
        "name": "Morning myoclonic jerks",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/morning-myoclonic-jerks"
      },
      {
        "slug": "cutaneous-photosensitivity",
        "name": "Photosensitive skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutaneous-photosensitivity"
      },
      {
        "slug": "sensory-axonal-neuropathy",
        "name": "Sensory axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensory-axonal-neuropathy"
      },
      {
        "slug": "atonic-seizure",
        "name": "Sudden loss of muscle tone",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/atonic-seizure"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tremor"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aars1"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "name": "4-aminobutyrate aminotransferase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/abat"
      },
      {
        "slug": "actl6b",
        "symbol": "ACTL6B",
        "name": "actin like 6B",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/actl6b"
      },
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "name": "ADAM metallopeptidase domain 22",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/adam22"
      },
      {
        "slug": "aldh7a1",
        "symbol": "ALDH7A1",
        "name": "aldehyde dehydrogenase 7 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aldh7a1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/alg13"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ap3b2"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "name": "ARV1 fatty acid homeostasis modulator",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arx"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atp1a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}