{
  "url": "https://dantelabs.com/sv/genes/tgfbi",
  "gene": {
    "slug": "tgfbi",
    "symbol": "TGFBI",
    "name": "transforming growth factor beta induced",
    "hgnc": "HGNC:11771",
    "summary": null,
    "location": "5q31.1",
    "locusType": "gene with protein product",
    "aliases": [
      "BIGH3",
      "CDB1",
      "CDGG1"
    ],
    "previousSymbols": [
      "CSD3",
      "LCD1",
      "CSD1",
      "CSD2"
    ],
    "ensemblId": "ENSG00000120708",
    "entrezId": 7045,
    "omim": [
      "601692"
    ],
    "uniprot": [
      "Q15582"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 136028988,
      "end": 136063818,
      "strand": "+",
      "ensemblTranscript": "ENST00000442011.7",
      "refseqTranscript": "NM_000358.3",
      "ensemblProtein": "ENSP00000416330.2",
      "refseqProtein": "NP_000349.1",
      "exons": [
        {
          "start": 136028988,
          "end": 136029189
        },
        {
          "start": 136033763,
          "end": 136033861
        },
        {
          "start": 136044058,
          "end": 136044122
        },
        {
          "start": 136046335,
          "end": 136046495
        },
        {
          "start": 136046851,
          "end": 136047015
        },
        {
          "start": 136047274,
          "end": 136047420
        },
        {
          "start": 136049439,
          "end": 136049580
        },
        {
          "start": 136052907,
          "end": 136053119
        },
        {
          "start": 136053943,
          "end": 136054080
        },
        {
          "start": 136054716,
          "end": 136054861
        },
        {
          "start": 136055680,
          "end": 136055816
        },
        {
          "start": 136056665,
          "end": 136056795
        },
        {
          "start": 136059090,
          "end": 136059214
        },
        {
          "start": 136060834,
          "end": 136060936
        },
        {
          "start": 136061500,
          "end": 136061579
        },
        {
          "start": 136062663,
          "end": 136062687
        },
        {
          "start": 136063186,
          "end": 136063818
        }
      ],
      "cds": {
        "start": 136029056,
        "end": 136063226
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 135364584,
      "end": 135399507,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 135546403,
      "end": 136546402,
      "genes": [
        {
          "symbol": "SLC25A48",
          "ensemblId": "ENSG00000145832",
          "biotype": "protein_coding",
          "start": 135476913,
          "end": 135890730,
          "strand": "+",
          "slug": "slc25a48"
        },
        {
          "symbol": "CXCL14",
          "ensemblId": "ENSG00000145824",
          "biotype": "protein_coding",
          "start": 135570679,
          "end": 135579580,
          "strand": "-",
          "slug": "cxcl14"
        },
        {
          "symbol": "IL9",
          "ensemblId": "ENSG00000145839",
          "biotype": "protein_coding",
          "start": 135892246,
          "end": 135895841,
          "strand": "-",
          "slug": "il9"
        },
        {
          "symbol": "LECT2",
          "ensemblId": "ENSG00000145826",
          "biotype": "protein_coding",
          "start": 135922279,
          "end": 135955061,
          "strand": "-",
          "slug": "lect2"
        },
        {
          "symbol": "SMAD5",
          "ensemblId": "ENSG00000113658",
          "biotype": "protein_coding",
          "start": 136132828,
          "end": 136188747,
          "strand": "+",
          "slug": "smad5"
        },
        {
          "symbol": "SMIM32",
          "ensemblId": "ENSG00000271824",
          "biotype": "protein_coding",
          "start": 136191468,
          "end": 136193162,
          "strand": "-",
          "slug": "smim32"
        },
        {
          "symbol": "TRPC7",
          "ensemblId": "ENSG00000069018",
          "biotype": "protein_coding",
          "start": 136212745,
          "end": 136365545,
          "strand": "-",
          "slug": "trpc7"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-corneal-dystrophies",
        "name": "Ärftliga hornhinnedystrofier",
        "diseases": [
          {
            "mondoId": "MONDO:0018102",
            "name": "Hornhinnedystrofi",
            "genes": 19,
            "inheritance": null,
            "description": "En grupp ärftliga tillstånd som påverkar ett eller flera lager i hornhinnan, bland dem Fuchs endoteldystrofi (ofta kopplad till en expansion av en repetition i TCF4), TGFBI-relaterade granulär- och gittrig dystrofi samt ovanligare typer orsakade av gener som SLC4A11, COL8A2, ZEB1 och CHST6.",
            "management": "Bärare av TGFBI-varianter rekommenderas i allmänhet att undvika lasерbaserad refraktiv kirurgi (LASIK eller PRK), eftersom den kan förvärra avlagringarna. Hornhinnetransplantation kan återställa synen vid avancerad sjukdom.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/hereditary-corneal-dystrophies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cornea-morphology",
        "name": "Abnormal cornea morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cornea-morphology"
      },
      {
        "slug": "abnormal-corneal-epithelium-morphology",
        "name": "Abnormal corneal epithelium morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-corneal-epithelium-morphology"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "blurred-vision",
        "name": "Blurred vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blurred-vision"
      },
      {
        "slug": "central-corneal-dystrophy",
        "name": "Central corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/central-corneal-dystrophy"
      },
      {
        "slug": "central-opacification-of-the-cornea",
        "name": "Central opacification of the cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/central-opacification-of-the-cornea"
      },
      {
        "slug": "central-posterior-corneal-opacity",
        "name": "Central posterior corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/central-posterior-corneal-opacity"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "corneal-crystals",
        "name": "Corneal crystals",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-crystals"
      },
      {
        "slug": "corneal-dystrophy",
        "name": "Corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/corneal-dystrophy"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "corneal-scarring",
        "name": "Corneal scarring",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-scarring"
      },
      {
        "slug": "corneal-stromal-edema",
        "name": "Corneal stromal edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-stromal-edema"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "decreased-corneal-sensation",
        "name": "Decreased corneal sensation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-corneal-sensation"
      },
      {
        "slug": "episodic-pain",
        "name": "Episodic pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-pain"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "ocular-pain",
        "name": "Eye pain",
        "systems": [
          "abnormality-of-the-eye",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ocular-pain"
      },
      {
        "slug": "palpebral-edema",
        "name": "Fullness of eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palpebral-edema"
      },
      {
        "slug": "granular-corneal-dystrophy",
        "name": "Granular corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/granular-corneal-dystrophy"
      },
      {
        "slug": "juvenile-epithelial-corneal-dystrophy",
        "name": "Juvenile epithelial corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/juvenile-epithelial-corneal-dystrophy"
      },
      {
        "slug": "lattice-corneal-dystrophy",
        "name": "Lattice corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lattice-corneal-dystrophy"
      },
      {
        "slug": "map-dot-fingerprint-corneal-dystrophy",
        "name": "Map-dot-fingerprint corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/map-dot-fingerprint-corneal-dystrophy"
      },
      {
        "slug": "nodular-corneal-dystrophy",
        "name": "Nodular corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nodular-corneal-dystrophy"
      },
      {
        "slug": "opacification-of-the-corneal-stroma",
        "name": "Opacification of the corneal stroma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "punctate-corneal-dystrophy",
        "name": "Punctate corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/punctate-corneal-dystrophy"
      },
      {
        "slug": "recurrent-corneal-erosions",
        "name": "Recurrent breakdown of clear protective layer of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-corneal-erosions"
      },
      {
        "slug": "red-eye",
        "name": "Red eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/red-eye"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "slow-decrease-in-visual-acuity",
        "name": "Slow decrease in sharpness of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/slow-decrease-in-visual-acuity"
      },
      {
        "slug": "subepithelial-corneal-opacities",
        "name": "Subepithelial corneal opacities",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subepithelial-corneal-opacities"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [
      {
        "slug": "chst6",
        "symbol": "CHST6",
        "name": "carbohydrate sulfotransferase 6",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/chst6"
      },
      {
        "slug": "col17a1",
        "symbol": "COL17A1",
        "name": "collagen type XVII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/col17a1"
      },
      {
        "slug": "col8a2",
        "symbol": "COL8A2",
        "name": "collagen type VIII alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/col8a2"
      },
      {
        "slug": "dcn",
        "symbol": "DCN",
        "name": "decorin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dcn"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "name": "grainyhead like transcription factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/grhl2"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gsn"
      },
      {
        "slug": "krt12",
        "symbol": "KRT12",
        "name": "keratin 12",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/krt12"
      },
      {
        "slug": "krt3",
        "symbol": "KRT3",
        "name": "keratin 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/krt3"
      },
      {
        "slug": "mcoln1",
        "symbol": "MCOLN1",
        "name": "mucolipin TRP cation channel 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/mcoln1"
      },
      {
        "slug": "nlrp1",
        "symbol": "NLRP1",
        "name": "NLR family pyrin domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/nlrp1"
      },
      {
        "slug": "ovol2",
        "symbol": "OVOL2",
        "name": "ovo like zinc finger 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ovol2"
      },
      {
        "slug": "pikfyve",
        "symbol": "PIKFYVE",
        "name": "phosphoinositide kinase, FYVE-type zinc finger containing",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/pikfyve"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}