{
  "url": "https://dantelabs.com/fi/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": [
      "FLJ31937",
      "EPM1B",
      "RILP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000139174",
    "entrezId": 144165,
    "omim": [
      "608500"
    ],
    "uniprot": [
      "Q96MT3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 42456757,
      "end": 42589746,
      "strand": "-",
      "ensemblTranscript": "ENST00000345127.9",
      "refseqTranscript": "NM_153026.3",
      "ensemblProtein": "ENSP00000345064.3",
      "refseqProtein": "NP_694571.2",
      "exons": [
        {
          "start": 42456757,
          "end": 42460665
        },
        {
          "start": 42464395,
          "end": 42465258
        },
        {
          "start": 42466194,
          "end": 42466380
        },
        {
          "start": 42468626,
          "end": 42468829
        },
        {
          "start": 42469450,
          "end": 42469587
        },
        {
          "start": 42470246,
          "end": 42470359
        },
        {
          "start": 42472385,
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        },
        {
          "start": 42589465,
          "end": 42589746
        }
      ],
      "cds": {
        "start": 42459809,
        "end": 42472516
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 42852140,
      "end": 42984157,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 42023252,
      "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",
          "start": 42238418,
          "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": "Epilepsia (laaja paneeli)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Epilepsia",
            "genes": 171,
            "inheritance": null,
            "description": "Aivosairaus, jolle on tyypillistä hermosolujen epänormaalin voimakkaan purkautumisen aiheuttamat jaksot. Ne aiheuttavat ohimeneviä aistihermoston tai motoriikan neurologisia toimintahäiriöitä tai psyykkisiä toimintahäiriöitä. Jaksoihin voi liittyä tajunnan menetys tai kouristuksia, mutta näin ei aina ole.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/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": [
          "abnormality-of-the-nervous-system"
        ],
        "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": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "eeg-with-polyspike-wave-complexes",
        "name": "EEG with polyspike wave complexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "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/fi/genes/aars1"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "name": "4-aminobutyrate aminotransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/abat"
      },
      {
        "slug": "actl6b",
        "symbol": "ACTL6B",
        "name": "actin like 6B",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/actl6b"
      },
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "name": "ADAM metallopeptidase domain 22",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/adam22"
      },
      {
        "slug": "aldh7a1",
        "symbol": "ALDH7A1",
        "name": "aldehyde dehydrogenase 7 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aldh7a1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/alg13"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ap3b2"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "name": "ARV1 fatty acid homeostasis modulator",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/arx"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atp1a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}