{
  "url": "https://dantelabs.com/hu/genes/tspan12",
  "gene": {
    "slug": "tspan12",
    "symbol": "TSPAN12",
    "name": "tetraspanin 12",
    "hgnc": "HGNC:21641",
    "summary": null,
    "location": "7q31.31",
    "locusType": "gene with protein product",
    "aliases": [
      "NET-2"
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    "previousSymbols": [
      "TM4SF12"
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    "ensemblId": "ENSG00000106025",
    "entrezId": 23554,
    "omim": [
      "613138"
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    "uniprot": [
      "O95859"
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      "release": "v1.5",
      "chrom": "7",
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      "end": 120858144,
      "strand": "-",
      "ensemblTranscript": "ENST00000222747.8",
      "refseqTranscript": "NM_012338.4",
      "ensemblProtein": "ENSP00000222747.3",
      "refseqProtein": "NP_036470.1",
      "exons": [
        {
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        },
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        }
      ],
      "cds": {
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      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
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      "end": 120498456,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 121322731,
      "genes": [
        {
          "symbol": "KCND2",
          "ensemblId": "ENSG00000184408",
          "biotype": "protein_coding",
          "start": 120272812,
          "end": 120750337,
          "strand": "+",
          "slug": "kcnd2"
        },
        {
          "symbol": "ING3",
          "ensemblId": "ENSG00000071243",
          "biotype": "protein_coding",
          "start": 120950718,
          "end": 120977216,
          "strand": "+",
          "slug": "ing3"
        },
        {
          "symbol": "CPED1",
          "ensemblId": "ENSG00000106034",
          "biotype": "protein_coding",
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          "end": 121299701,
          "strand": "+",
          "slug": "cped1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "vitreoretinopathy",
        "name": "Vitreoretinopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0020248",
            "name": "Vitreoretinal Degeneration",
            "genes": 21,
            "inheritance": null,
            "description": null,
            "management": null,
            "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/hu/conditions/vitreoretinopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-optic-disc-morphology",
        "name": "Abnormal optic disc morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "avascular-peripheral-retina",
        "name": "Avascular peripheral retina",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/avascular-peripheral-retina"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "chorioretinal-atrophy",
        "name": "Chorioretinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "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": "epiretinal-membrane",
        "name": "Epiretinal membrane",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epiretinal-membrane"
      },
      {
        "slug": "exudative-vitreoretinopathy",
        "name": "Exudative vitreoretinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/exudative-vitreoretinopathy"
      },
      {
        "slug": "vitreous-floaters",
        "name": "Eye floaters",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vitreous-floaters"
      },
      {
        "slug": "falciform-retinal-fold",
        "name": "Falciform retinal fold",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/falciform-retinal-fold"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "macular-edema",
        "name": "Macular edema",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macular-edema"
      },
      {
        "slug": "macular-exudate",
        "name": "Macular exudate",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macular-exudate"
      },
      {
        "slug": "macular-telangiectasia",
        "name": "Macular telangiectasia",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macular-telangiectasia"
      },
      {
        "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": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "retinal-exudate",
        "name": "Retinal exudate",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-exudate"
      },
      {
        "slug": "retinal-neovascularization",
        "name": "Retinal neovascularization",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-neovascularization"
      },
      {
        "slug": "rhegmatogenous-retinal-detachment",
        "name": "Rhegmatogenous retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rhegmatogenous-retinal-detachment"
      },
      {
        "slug": "shallow-anterior-chamber",
        "name": "Shallow anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/shallow-anterior-chamber"
      },
      {
        "slug": "subretinal-fluid",
        "name": "Subretinal fluid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subretinal-fluid"
      },
      {
        "slug": "lymphedema",
        "name": "Swelling caused by excess lymph fluid under skin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphedema"
      },
      {
        "slug": "tractional-retinal-detachment",
        "name": "Tractional retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tractional-retinal-detachment"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "vitreoretinopathy",
        "name": "Vitreoretinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vitreoretinopathy"
      },
      {
        "slug": "vitreous-hemorrhage",
        "name": "Vitreous hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vitreous-hemorrhage"
      }
    ],
    "related": [
      {
        "slug": "best1",
        "symbol": "BEST1",
        "name": "bestrophin 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/best1"
      },
      {
        "slug": "capn5",
        "symbol": "CAPN5",
        "name": "calpain 5",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/capn5"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "name": "collagen type XI alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/col11a1"
      },
      {
        "slug": "col18a1",
        "symbol": "COL18A1",
        "name": "collagen type XVIII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/col18a1"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "name": "collagen type II alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/col2a1"
      },
      {
        "slug": "col9a1",
        "symbol": "COL9A1",
        "name": "collagen type IX alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/col9a1"
      },
      {
        "slug": "col9a2",
        "symbol": "COL9A2",
        "name": "collagen type IX alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/col9a2"
      },
      {
        "slug": "col9a3",
        "symbol": "COL9A3",
        "name": "collagen type IX alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/col9a3"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "name": "catenin beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ctnnb1"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dync1h1"
      },
      {
        "slug": "fzd4",
        "symbol": "FZD4",
        "name": "frizzled class receptor 4",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fzd4"
      },
      {
        "slug": "kcnj13",
        "symbol": "KCNJ13",
        "name": "potassium inwardly rectifying channel subfamily J member 13",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/kcnj13"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}