{
  "url": "https://dantelabs.com/sv/genes/tbx18",
  "gene": {
    "slug": "tbx18",
    "symbol": "TBX18",
    "name": "T-box transcription factor 18",
    "hgnc": "HGNC:11595",
    "summary": null,
    "location": "6q14.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000112837",
    "entrezId": 9096,
    "omim": [
      "604613"
    ],
    "uniprot": [
      "O95935"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 84732496,
      "end": 84764598,
      "strand": "-",
      "ensemblTranscript": "ENST00000369663.10",
      "refseqTranscript": "NM_001080508.3",
      "ensemblProtein": "ENSP00000358677.4",
      "refseqProtein": "NP_001073977.1",
      "exons": [
        {
          "start": 84732496,
          "end": 84737409
        },
        {
          "start": 84738497,
          "end": 84738591
        },
        {
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        {
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        },
        {
          "start": 84756698,
          "end": 84756869
        },
        {
          "start": 84760255,
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        },
        {
          "start": 84762544,
          "end": 84762748
        },
        {
          "start": 84763890,
          "end": 84764598
        }
      ],
      "cds": {
        "start": 84736685,
        "end": 84764181
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 85397069,
      "end": 85474237,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 84248547,
      "end": 85248546,
      "genes": [],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-anomalies-kidney-urinary-tract",
        "name": "Medfödda missbildningar i njurar och urinvägar",
        "diseases": [
          {
            "mondoId": "MONDO:0019719",
            "name": "Medfödd missbildning av njurar och urinvägar",
            "genes": 2,
            "inheritance": null,
            "description": "En bred grupp av utvecklingsrelaterade missbildningar i njurar och urinvägar; genetiska orsaker omfattar varianter i PAX2, HNF1B, GREB1L och andra gener, ofta med varierande penetrans.",
            "management": "Om du vet detta kan det leda till njurundersökning med bilddiagnostik och kontroller av njurfunktionen hos dig och dina släktingar.",
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/congenital-anomalies-kidney-urinary-tract"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "back-pain",
        "name": "Back pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/back-pain"
      },
      {
        "slug": "congenital-megaureter",
        "name": "Congenital megaureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-megaureter"
      },
      {
        "slug": "flank-pain",
        "name": "Flank pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flank-pain"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hydroureter",
        "name": "Hydroureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydroureter"
      },
      {
        "slug": "hyperechogenic-kidneys",
        "name": "Hyperechogenic kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperechogenic-kidneys"
      },
      {
        "slug": "renal-dysplasia",
        "name": "Renal dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-dysplasia"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "ureteropelvic-junction-obstruction",
        "name": "Ureteropelvic junction obstruction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ureteropelvic-junction-obstruction"
      }
    ],
    "related": [
      {
        "slug": "dstyk",
        "symbol": "DSTYK",
        "name": "dual serine/threonine and tyrosine protein kinase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dstyk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}