{
  "url": "https://dantelabs.com/nl/genes/fat1",
  "gene": {
    "slug": "fat1",
    "symbol": "FAT1",
    "name": "FAT atypical cadherin 1",
    "hgnc": "HGNC:3595",
    "summary": null,
    "location": "4q35.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CDHF7",
      "CDHR8"
    ],
    "previousSymbols": [
      "FAT"
    ],
    "ensemblId": "ENSG00000083857",
    "entrezId": 2195,
    "omim": [
      "600976"
    ],
    "uniprot": [
      "Q14517"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 186587794,
      "end": 186723856,
      "strand": "-",
      "ensemblTranscript": "ENST00000441802.7",
      "refseqTranscript": "NM_005245.4",
      "ensemblProtein": "ENSP00000406229.2",
      "refseqProtein": "NP_005236.2",
      "exons": [
        {
          "start": 186587794,
          "end": 186589220
        },
        {
          "start": 186595689,
          "end": 186595826
        },
        {
          "start": 186596540,
          "end": 186597171
        },
        {
          "start": 186597682,
          "end": 186597792
        },
        {
          "start": 186597972,
          "end": 186598125
        },
        {
          "start": 186599898,
          "end": 186600360
        },
        {
          "start": 186601269,
          "end": 186601426
        },
        {
          "start": 186602903,
          "end": 186603034
        },
        {
          "start": 186603176,
          "end": 186603977
        },
        {
          "start": 186604377,
          "end": 186604574
        },
        {
          "start": 186606070,
          "end": 186606213
        },
        {
          "start": 186609183,
          "end": 186609320
        },
        {
          "start": 186609801,
          "end": 186610015
        },
        {
          "start": 186611386,
          "end": 186611775
        },
        {
          "start": 186613109,
          "end": 186613342
        },
        {
          "start": 186614191,
          "end": 186614344
        },
        {
          "start": 186617005,
          "end": 186617201
        },
        {
          "start": 186617708,
          "end": 186621775
        },
        {
          "start": 186628154,
          "end": 186628364
        },
        {
          "start": 186628488,
          "end": 186628763
        },
        {
          "start": 186633684,
          "end": 186633823
        },
        {
          "start": 186636025,
          "end": 186636235
        },
        {
          "start": 186636585,
          "end": 186636914
        },
        {
          "start": 186639722,
          "end": 186639783
        },
        {
          "start": 186663299,
          "end": 186663613
        },
        {
          "start": 186706563,
          "end": 186709845
        },
        {
          "start": 186723664,
          "end": 186723856
        }
      ],
      "cds": {
        "start": 186588592,
        "end": 186709827
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 187508937,
      "end": 187647876,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 186155825,
      "end": 187155824,
      "genes": [
        {
          "symbol": "FAM149A",
          "ensemblId": "ENSG00000109794",
          "biotype": "protein_coding",
          "start": 186104419,
          "end": 186175437,
          "strand": "+",
          "slug": "fam149a"
        },
        {
          "symbol": "CYP4V2",
          "ensemblId": "ENSG00000145476",
          "biotype": "protein_coding",
          "start": 186191258,
          "end": 186215245,
          "strand": "+",
          "slug": "cyp4v2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000290316",
          "biotype": "protein_coding",
          "start": 186208979,
          "end": 186258469,
          "strand": "+"
        },
        {
          "symbol": "KLKB1",
          "ensemblId": "ENSG00000164344",
          "biotype": "protein_coding",
          "start": 186225424,
          "end": 186258476,
          "strand": "+",
          "slug": "klkb1"
        },
        {
          "symbol": "F11",
          "ensemblId": "ENSG00000088926",
          "biotype": "protein_coding",
          "start": 186260159,
          "end": 186291745,
          "strand": "+",
          "slug": "f11"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272297",
          "biotype": "protein_coding",
          "start": 186426546,
          "end": 186555328,
          "strand": "-"
        },
        {
          "symbol": "MTNR1A",
          "ensemblId": "ENSG00000168412",
          "biotype": "protein_coding",
          "start": 186526792,
          "end": 186555567,
          "strand": "-",
          "slug": "mtnr1a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Fokale segmentale glomerulosclerose",
        "diseases": [
          {
            "mondoId": "MONDO:0100313",
            "name": "Fokale segmentale glomerulosclerose",
            "genes": 8,
            "inheritance": null,
            "description": "Een nieraandoening die wordt gekenmerkt door sclerotische laesies in de glomeruli. Oorzaken zijn onder meer geneesmiddelen, virussen en maligniteiten (lymfomen), of de oorzaak is onbekend (idiopathisch). Er kan asymptomatische proteïnurie of nefritisch syndroom optreden, en het kan leiden tot nierfalen.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Strong",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/focal-segmental-glomerulosclerosis"
      },
      {
        "slug": "glomerulosclerosis",
        "name": "Glomerulosclerose",
        "diseases": [
          {
            "mondoId": "MONDO:0000490",
            "name": "Glomerulosclerose",
            "genes": 8,
            "inheritance": null,
            "description": "Een verharding van de glomerulus van de nier, veroorzaakt door littekenvorming in de bloedvaatjes.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Strong",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/glomerulosclerosis"
      },
      {
        "slug": "microphthalmia-anophthalmia-coloboma",
        "name": "Microftalmie, anoftalmie en coloboom",
        "diseases": [
          {
            "mondoId": "MONDO:0016073",
            "name": "Syndromale microftalmie",
            "genes": 19,
            "inheritance": null,
            "description": "Microftalmie die samengaat met kenmerken buiten het oog, veroorzaakt door veranderingen in genen zoals SOX2, OTX2, BCOR, STRA6 en BMP4.",
            "management": "Een genetische diagnose stuurt de controles op bijbehorende kenmerken, zoals problemen met hypofysehormonen bij SOX2 of OTX2, en geeft inzicht in het herhalingsrisico.",
            "evidence": {
              "gencc": [
                "LiferaOmics"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/microphthalmia-anophthalmia-coloboma"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [],
    "related": [
      {
        "slug": "actn4",
        "symbol": "ACTN4",
        "name": "actinin alpha 4",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/actn4"
      },
      {
        "slug": "anln",
        "symbol": "ANLN",
        "name": "anillin, actin binding protein",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/anln"
      },
      {
        "slug": "crb2",
        "symbol": "CRB2",
        "name": "crumbs cell polarity complex component 2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/crb2"
      },
      {
        "slug": "inf2",
        "symbol": "INF2",
        "name": "inverted formin 2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/inf2"
      },
      {
        "slug": "myo1e",
        "symbol": "MYO1E",
        "name": "myosin IE",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/myo1e"
      },
      {
        "slug": "pax2",
        "symbol": "PAX2",
        "name": "paired box 2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/pax2"
      },
      {
        "slug": "trpc6",
        "symbol": "TRPC6",
        "name": "transient receptor potential cation channel subfamily C member 6",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/trpc6"
      },
      {
        "slug": "bcor",
        "symbol": "BCOR",
        "name": "BCL6 corepressor",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/bcor"
      },
      {
        "slug": "bmp4",
        "symbol": "BMP4",
        "name": "bone morphogenetic protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/bmp4"
      },
      {
        "slug": "cox7b",
        "symbol": "COX7B",
        "name": "cytochrome c oxidase subunit 7B",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cox7b"
      },
      {
        "slug": "ercc1",
        "symbol": "ERCC1",
        "name": "ERCC excision repair 1, endonuclease non-catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ercc1"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ercc2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}