{
  "url": "https://dantelabs.com/sv/genes/timp3",
  "gene": {
    "slug": "timp3",
    "symbol": "TIMP3",
    "name": "TIMP metallopeptidase inhibitor 3",
    "hgnc": "HGNC:11822",
    "summary": null,
    "location": "22q12.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "SFD"
    ],
    "ensemblId": "ENSG00000100234",
    "entrezId": 7078,
    "omim": [
      "188826"
    ],
    "uniprot": [
      "P35625"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "22",
      "start": 32801705,
      "end": 32863041,
      "strand": "+",
      "ensemblTranscript": "ENST00000266085.7",
      "refseqTranscript": "NM_000362.5",
      "ensemblProtein": "ENSP00000266085.5",
      "refseqProtein": "NP_000353.1",
      "exons": [
        {
          "start": 32801705,
          "end": 32802122
        },
        {
          "start": 32849452,
          "end": 32849534
        },
        {
          "start": 32857249,
          "end": 32857360
        },
        {
          "start": 32858017,
          "end": 32858138
        },
        {
          "start": 32859180,
          "end": 32863041
        }
      ],
      "cds": {
        "start": 32802002,
        "end": 32859377
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
      "start": 33197687,
      "end": 33259030,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 32332373,
      "end": 33332372,
      "genes": [
        {
          "symbol": "RFPL3",
          "ensemblId": "ENSG00000128276",
          "biotype": "protein_coding",
          "start": 32354885,
          "end": 32361161,
          "strand": "+",
          "slug": "rfpl3"
        },
        {
          "symbol": "RTCB",
          "ensemblId": "ENSG00000100220",
          "biotype": "protein_coding",
          "start": 32387575,
          "end": 32412265,
          "strand": "-",
          "slug": "rtcb"
        },
        {
          "symbol": "BPIFC",
          "ensemblId": "ENSG00000184459",
          "biotype": "protein_coding",
          "start": 32413845,
          "end": 32464484,
          "strand": "-",
          "slug": "bpifc"
        },
        {
          "symbol": "FBXO7",
          "ensemblId": "ENSG00000100225",
          "biotype": "protein_coding",
          "start": 32474676,
          "end": 32499787,
          "strand": "+",
          "slug": "fbxo7"
        },
        {
          "symbol": "SYN3",
          "ensemblId": "ENSG00000185666",
          "biotype": "protein_coding",
          "start": 32507820,
          "end": 33058388,
          "strand": "-",
          "slug": "syn3"
        },
        {
          "symbol": "LARGE1",
          "ensemblId": "ENSG00000133424",
          "biotype": "protein_coding",
          "start": 33162226,
          "end": 33922885,
          "strand": "-",
          "slug": "large1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-macular-dystrophies",
        "name": "Hereditära makuladystrofier",
        "diseases": [
          {
            "mondoId": "MONDO:0007640",
            "name": "Sorsby fundusdystrofi",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "En dominant makuladystrofi orsakad av förändringar i TIMP3, som vanligtvis debuterar i medelåldern.",
            "management": "Det finns en hög risk för onormal kärlväxt under retina, som svarar på anti-VEGF-injektioner, så uppföljning och snabb behandling är viktiga.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/hereditary-macular-dystrophies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-choroid-morphology",
        "name": "Abnormal choroid morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-choroid-morphology"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "abnormal-fundus-autofluorescence-imaging",
        "name": "Abnormal fundus autofluorescence imaging",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-fundus-autofluorescence-imaging"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "choriocapillaris-atrophy",
        "name": "Choriocapillaris atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/choriocapillaris-atrophy"
      },
      {
        "slug": "chorioretinal-atrophy",
        "name": "Chorioretinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "choroidal-neovascularization",
        "name": "Choroidal neovascularization",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/choroidal-neovascularization"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "hyporeflective-spaces-on-macular-oct",
        "name": "Hyporeflective spaces on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflective-spaces-on-macular-oct"
      },
      {
        "slug": "large-central-visual-field-defect",
        "name": "Large central loss of field of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/large-central-visual-field-defect"
      },
      {
        "slug": "macular-dystrophy",
        "name": "Macular dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macular-dystrophy"
      },
      {
        "slug": "severely-reduced-visual-acuity",
        "name": "Marked vision impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "retinal-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      },
      {
        "slug": "retinal-pigment-epithelial-atrophy",
        "name": "Retinal pigment epithelial atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-atrophy"
      },
      {
        "slug": "subretinal-deposits",
        "name": "Subretinal deposits",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subretinal-deposits"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "yellow-white-macular-lesion",
        "name": "Yellow/white macular lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/yellow-white-macular-lesion"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}