{
  "url": "https://dantelabs.com/pt/genes/pls3",
  "gene": {
    "slug": "pls3",
    "symbol": "PLS3",
    "name": "plastin 3",
    "hgnc": "HGNC:9091",
    "summary": null,
    "location": "Xq23",
    "locusType": "gene with protein product",
    "aliases": [
      "T-plastin"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000102024",
    "entrezId": 5358,
    "omim": [
      "300131"
    ],
    "uniprot": [
      "P13797"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 115561174,
      "end": 115650861,
      "strand": "+",
      "ensemblTranscript": "ENST00000355899.8",
      "refseqTranscript": "NM_005032.7",
      "ensemblProtein": "ENSP00000348163.3",
      "refseqProtein": "NP_005023.2",
      "exons": [
        {
          "start": 115561174,
          "end": 115561260
        },
        {
          "start": 115610243,
          "end": 115610323
        },
        {
          "start": 115622246,
          "end": 115622409
        },
        {
          "start": 115629198,
          "end": 115629327
        },
        {
          "start": 115629835,
          "end": 115629967
        },
        {
          "start": 115634000,
          "end": 115634081
        },
        {
          "start": 115634881,
          "end": 115635046
        },
        {
          "start": 115636836,
          "end": 115636978
        },
        {
          "start": 115640408,
          "end": 115640503
        },
        {
          "start": 115643313,
          "end": 115643508
        },
        {
          "start": 115645021,
          "end": 115645099
        },
        {
          "start": 115646072,
          "end": 115646186
        },
        {
          "start": 115646402,
          "end": 115646535
        },
        {
          "start": 115647550,
          "end": 115647673
        },
        {
          "start": 115647893,
          "end": 115648017
        },
        {
          "start": 115649429,
          "end": 115650861
        }
      ],
      "cds": {
        "start": 115610251,
        "end": 115649561
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 114795501,
      "end": 114885181,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 115106018,
      "end": 116106017,
      "genes": [
        {
          "symbol": "LRCH2",
          "ensemblId": "ENSG00000130224",
          "biotype": "protein_coding",
          "start": 115110613,
          "end": 115234096,
          "strand": "-",
          "slug": "lrch2"
        },
        {
          "symbol": "RBMXL3",
          "ensemblId": "ENSG00000175718",
          "biotype": "protein_coding",
          "start": 115189410,
          "end": 115192868,
          "strand": "+",
          "slug": "rbmxl3"
        },
        {
          "symbol": "LUZP4",
          "ensemblId": "ENSG00000102021",
          "biotype": "protein_coding",
          "start": 115289715,
          "end": 115307563,
          "strand": "+",
          "slug": "luzp4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-diaphragmatic-hernia",
        "name": "Hérnia Diafragmática Congénita (Monogénica)",
        "diseases": [
          {
            "mondoId": "MONDO:0005711",
            "name": "Hérnia Diafragmática Congénita",
            "genes": 3,
            "inheritance": null,
            "description": "Formação incompleta do diafragma presente à nascença, que numa minoria de famílias está associada a genes individuais como ZFPM2, GATA4, NR2F2, ALDH1A2 ou PLS3, frequentemente com penetrância incompleta.",
            "management": "Conhecer esta informação é sobretudo relevante para o planeamento familiar, pois pode informar o risco de recorrência e a opção de imagiologia pré-natal numa futura gravidez.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/congenital-diaphragmatic-hernia"
      },
      {
        "slug": "monogenic-early-onset-osteoporosis",
        "name": "Osteoporose Monogénica de Início Precoce",
        "diseases": [
          {
            "mondoId": "MONDO:0018315",
            "name": "Osteoporose ligada ao cromossoma X com fraturas (relacionada com PLS3)",
            "genes": 1,
            "inheritance": null,
            "description": "Osteoporose de início precoce com fraturas, incluindo fraturas vertebrais, causada por variantes em PLS3; os indivíduos do sexo masculino são geralmente mais gravemente afetados do que os do sexo feminino.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/monogenic-early-onset-osteoporosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "congenital-diaphragmatic-hernia",
        "name": "Congenital diaphragmatic hernia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/congenital-diaphragmatic-hernia"
      }
    ],
    "related": [
      {
        "slug": "aldh1a2",
        "symbol": "ALDH1A2",
        "name": "aldehyde dehydrogenase 1 family member A2",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/aldh1a2"
      },
      {
        "slug": "zfpm2",
        "symbol": "ZFPM2",
        "name": "zinc finger protein, FOG family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/zfpm2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}