{
  "url": "https://dantelabs.com/fr/genes/ctnna1",
  "gene": {
    "slug": "ctnna1",
    "symbol": "CTNNA1",
    "name": "catenin alpha 1",
    "hgnc": "HGNC:2509",
    "summary": null,
    "location": "5q31.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CAP102"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000044115",
    "entrezId": 1495,
    "omim": [
      "116805"
    ],
    "uniprot": [
      "P35221"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 138753425,
      "end": 138935034,
      "strand": "+",
      "ensemblTranscript": "ENST00000302763.12",
      "refseqTranscript": "NM_001903.5",
      "ensemblProtein": "ENSP00000304669.7",
      "refseqProtein": "NP_001894.2",
      "exons": [
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          "end": 138753510
        },
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        }
      ],
      "cds": {
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        "end": 138934089
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 137946656,
      "end": 138270723,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 138344230,
      "end": 139344229,
      "genes": [
        {
          "symbol": "FAM53C",
          "ensemblId": "ENSG00000120709",
          "biotype": "protein_coding",
          "start": 138331935,
          "end": 138349729,
          "strand": "+",
          "slug": "fam53c"
        },
        {
          "symbol": "KDM3B",
          "ensemblId": "ENSG00000120733",
          "biotype": "protein_coding",
          "start": 138352676,
          "end": 138437028,
          "strand": "+",
          "slug": "kdm3b"
        },
        {
          "symbol": "REEP2",
          "ensemblId": "ENSG00000132563",
          "biotype": "protein_coding",
          "start": 138438976,
          "end": 138446969,
          "strand": "+",
          "slug": "reep2"
        },
        {
          "symbol": "EGR1",
          "ensemblId": "ENSG00000120738",
          "biotype": "protein_coding",
          "start": 138465190,
          "end": 138471204,
          "strand": "+",
          "slug": "egr1"
        },
        {
          "symbol": "ETF1",
          "ensemblId": "ENSG00000120705",
          "biotype": "protein_coding",
          "start": 138506093,
          "end": 138543239,
          "strand": "-",
          "slug": "etf1"
        },
        {
          "symbol": "HSPA9",
          "ensemblId": "ENSG00000113013",
          "biotype": "protein_coding",
          "start": 138553756,
          "end": 138575675,
          "strand": "-",
          "slug": "hspa9"
        },
        {
          "symbol": "LRRTM2",
          "ensemblId": "ENSG00000146006",
          "biotype": "protein_coding",
          "start": 138868921,
          "end": 138875383,
          "strand": "-",
          "slug": "lrrtm2"
        },
        {
          "symbol": "SIL1",
          "ensemblId": "ENSG00000120725",
          "biotype": "protein_coding",
          "start": 138886914,
          "end": 139293557,
          "strand": "-",
          "slug": "sil1"
        },
        {
          "symbol": "MATR3",
          "ensemblId": "ENSG00000015479",
          "biotype": "protein_coding",
          "start": 139273752,
          "end": 139332518,
          "strand": "+",
          "slug": "matr3"
        },
        {
          "symbol": "PAIP2",
          "ensemblId": "ENSG00000120727",
          "biotype": "protein_coding",
          "start": 139341587,
          "end": 139369733,
          "strand": "+",
          "slug": "paip2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-diffuse-gastric-cancer",
        "name": "Cancer gastrique diffus héréditaire",
        "diseases": [
          {
            "mondoId": "MONDO:0100256",
            "name": "Syndrome de cancer gastrique diffus et de cancer du sein lobulaire lié à CTNNA1",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Variants de CTNNA1 qui augmentent le risque de cancer gastrique diffus et de cancer du sein lobulaire.",
            "management": "Une surveillance endoscopique et un dépistage du cancer du sein sont généralement recommandés.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/hereditary-diffuse-gastric-cancer"
      },
      {
        "slug": "moderate-penetrance-breast-ovarian-cancer-genes",
        "name": "Gènes du cancer du sein et de l'ovaire autres que BRCA1/2",
        "diseases": [
          {
            "mondoId": "MONDO:0016419",
            "name": "Cancer du sein héréditaire",
            "genes": 7,
            "inheritance": "autosomal-dominant",
            "description": "Prédisposition héréditaire au cancer du sein due à des variants de l'un de plusieurs gènes.",
            "management": "Un dépistage mammaire plus précoce et plus intensif, y compris par IRM, peut être recommandé selon le gène.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/moderate-penetrance-breast-ovarian-cancer-genes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "drusen",
        "name": "Drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/drusen"
      },
      {
        "slug": "foveal-hyperpigmentation",
        "name": "Foveal hyperpigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foveal-hyperpigmentation"
      },
      {
        "slug": "pattern-dystrophy-of-the-retina",
        "name": "Pattern dystrophy of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pattern-dystrophy-of-the-retina"
      }
    ],
    "related": [
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atm"
      },
      {
        "slug": "bard1",
        "symbol": "BARD1",
        "name": "BRCA1 associated RING domain 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bard1"
      },
      {
        "slug": "brip1",
        "symbol": "BRIP1",
        "name": "BRCA1 interacting DNA helicase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/brip1"
      },
      {
        "slug": "cdh1",
        "symbol": "CDH1",
        "name": "cadherin 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cdh1"
      },
      {
        "slug": "chek2",
        "symbol": "CHEK2",
        "name": "checkpoint kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/chek2"
      },
      {
        "slug": "palb2",
        "symbol": "PALB2",
        "name": "partner and localizer of BRCA2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/palb2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}