{
  "url": "https://dantelabs.com/cs/genes/col17a1",
  "gene": {
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        {
          "symbol": "CFAP43",
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        {
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          "biotype": "protein_coding",
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          "slug": "gsto1"
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        {
          "symbol": "GSTO2",
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          "biotype": "protein_coding",
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        {
          "symbol": "ITPRIP",
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          "biotype": "protein_coding",
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    },
    "reports": [
      {
        "slug": "epidermolysis-bullosa",
        "name": "Epidermolysis Bullosa",
        "diseases": [
          {
            "mondoId": "MONDO:0030750",
            "name": "Epidermolysis Bullosa, Junctional 4, Intermediate",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
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                "G2P"
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              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019276",
            "name": "Inherited epidermolysis bullosa",
            "genes": 19,
            "inheritance": null,
            "description": "All inherited forms of skin fragility with blistering, including simplex, junctional and dystrophic epidermolysis bullosa and Kindler syndrome.",
            "management": "Recessive dystrophic forms need regular skin cancer surveillance, and gene-based wound therapy is now available for dystrophic EB.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
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            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/epidermolysis-bullosa"
      },
      {
        "slug": "hereditary-corneal-dystrophies",
        "name": "Hereditary Corneal Dystrophies",
        "diseases": [
          {
            "mondoId": "MONDO:0018102",
            "name": "Corneal Dystrophy",
            "genes": 19,
            "inheritance": null,
            "description": "A group of inherited conditions affecting one or more layers of the cornea, including Fuchs endothelial dystrophy (often linked to a TCF4 repeat expansion), TGFBI-related granular and lattice dystrophies, and rarer types caused by genes such as SLC4A11, COL8A2, ZEB1 and CHST6.",
            "management": "Carriers of TGFBI variants are generally advised to avoid laser refractive surgery (LASIK or PRK), which can make deposits worse; corneal transplant can restore vision in advanced disease.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/hereditary-corneal-dystrophies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "abnormal-respiratory-system-morphology",
        "name": "Abnormal respiratory system morphology",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-respiratory-system-morphology"
      },
      {
        "slug": "abnormal-skin-pigmentation",
        "name": "Abnormal skin pigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation"
      },
      {
        "slug": "abnormality-of-dental-color",
        "name": "Abnormality of dental color",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-dental-color"
      },
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "abnormal-scalp-morphology",
        "name": "Abnormality of the scalp",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormal-scalp-morphology"
      },
      {
        "slug": "aplasia-cutis-congenita",
        "name": "Absence of part of skin at birth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-cutis-congenita"
      },
      {
        "slug": "anonychia",
        "name": "Absent nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anonychia"
      },
      {
        "slug": "acral-blistering",
        "name": "Acral blistering",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acral-blistering"
      },
      {
        "slug": "adermatoglyphia",
        "name": "Adermatoglyphia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adermatoglyphia"
      },
      {
        "slug": "atrophic-patchy-alopecia",
        "name": "Atrophic, patchy alopecia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrophic-patchy-alopecia"
      },
      {
        "slug": "atypical-scarring-of-skin",
        "name": "Atypical scarring of skin",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/atypical-scarring-of-skin"
      },
      {
        "slug": "basal-cell-carcinoma",
        "name": "Basal cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/basal-cell-carcinoma"
      },
      {
        "slug": "blurred-vision",
        "name": "Blurred vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blurred-vision"
      },
      {
        "slug": "fragile-nails",
        "name": "Brittle nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/fragile-nails"
      },
      {
        "slug": "corneal-dystrophy",
        "name": "Corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-dystrophy"
      },
      {
        "slug": "corneal-scarring",
        "name": "Corneal scarring",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-scarring"
      },
      {
        "slug": "cutaneous-melanoma",
        "name": "Cutaneous melanoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/cutaneous-melanoma"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "dental-enamel-pits",
        "name": "Dental enamel pits",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dental-enamel-pits"
      },
      {
        "slug": "keratoconjunctivitis-sicca",
        "name": "Dry eye syndrome",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/keratoconjunctivitis-sicca"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "palmar-hyperhidrosis",
        "name": "Excessive sweating of hands",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/palmar-hyperhidrosis"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/ocular-pain"
      },
      {
        "slug": "hypodontia",
        "name": "Failure of development of between one and six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/hypodontia"
      },
      {
        "slug": "fragile-skin",
        "name": "Fragile skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fragile-skin"
      },
      {
        "slug": "gastrointestinal-inflammation",
        "name": "Gastrointestinal inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/gastrointestinal-inflammation"
      },
      {
        "slug": "genital-blistering",
        "name": "Genital blistering",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/genital-blistering"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "scarring-alopecia-of-scalp",
        "name": "Hair loss on scalp from scarring condition",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scarring-alopecia-of-scalp"
      },
      {
        "slug": "hypoplastic-dermoepidermal-hemidesmosomes",
        "name": "Hypoplastic dermoepidermal hemidesmosomes",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplastic-dermoepidermal-hemidesmosomes"
      },
      {
        "slug": "epiphora",
        "name": "Increased tears",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epiphora"
      },
      {
        "slug": "irregular-astigmatism",
        "name": "Irregular astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irregular-astigmatism"
      },
      {
        "slug": "keloids",
        "name": "Keloids",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/keloids"
      },
      {
        "slug": "lamina-lucida-cleavage",
        "name": "Lamina lucida cleavage",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lamina-lucida-cleavage"
      },
      {
        "slug": "limb-joint-contracture",
        "name": "Limb contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/limb-joint-contracture"
      },
      {
        "slug": "sparse-axillary-hair",
        "name": "Limited armpit hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-axillary-hair"
      },
      {
        "slug": "localized-skin-lesion",
        "name": "Localized skin lesion",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/localized-skin-lesion"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "macular-hyperpigmented-dermopathy",
        "name": "Macular hyperpigmented dermopathy",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macular-hyperpigmented-dermopathy"
      },
      {
        "slug": "milia",
        "name": "Milk spot",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/milia"
      },
      {
        "slug": "mitten-deformity",
        "name": "Mitten deformity",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/mitten-deformity"
      },
      {
        "slug": "oral-mucosal-blisters",
        "name": "Oral mucosal blisters",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/oral-mucosal-blisters"
      },
      {
        "slug": "patchy-alopecia",
        "name": "Patchy baldness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/patchy-alopecia"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "plantar-hyperkeratosis",
        "name": "Plantar hyperkeratosis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/plantar-hyperkeratosis"
      },
      {
        "slug": "dystrophic-fingernails",
        "name": "Poor fingernail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dystrophic-fingernails"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "dystrophic-toenail",
        "name": "Poor toenail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystrophic-toenail"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "recurrent-corneal-erosions",
        "name": "Recurrent breakdown of clear protective layer of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-corneal-erosions"
      },
      {
        "slug": "skin-detachment",
        "name": "Skin detachment",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skin-detachment"
      },
      {
        "slug": "sparse-body-hair",
        "name": "Sparse body hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-body-hair"
      },
      {
        "slug": "sparse-pubic-hair",
        "name": "Sparse pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-pubic-hair"
      },
      {
        "slug": "squamous-cell-carcinoma",
        "name": "Squamous cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/squamous-cell-carcinoma"
      },
      {
        "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": "atrophic-scars",
        "name": "Sunken or indented skin due to damage",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atrophic-scars"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "abnormality-of-the-urinary-system",
        "name": "Urinary tract abnormalities",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-urinary-system"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "cd151",
        "symbol": "CD151",
        "name": "CD151 molecule (Raph blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cd151"
      },
      {
        "slug": "chst6",
        "symbol": "CHST6",
        "name": "carbohydrate sulfotransferase 6",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/chst6"
      },
      {
        "slug": "col7a1",
        "symbol": "COL7A1",
        "name": "collagen type VII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/col7a1"
      },
      {
        "slug": "col8a2",
        "symbol": "COL8A2",
        "name": "collagen type VIII alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/col8a2"
      },
      {
        "slug": "dcn",
        "symbol": "DCN",
        "name": "decorin",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dcn"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "name": "desmoplakin",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dsp"
      },
      {
        "slug": "dst",
        "symbol": "DST",
        "name": "dystonin",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dst"
      },
      {
        "slug": "exph5",
        "symbol": "EXPH5",
        "name": "exophilin 5",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/exph5"
      },
      {
        "slug": "fermt1",
        "symbol": "FERMT1",
        "name": "FERM domain containing kindlin 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/fermt1"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "name": "grainyhead like transcription factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/grhl2"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/gsn"
      },
      {
        "slug": "itga3",
        "symbol": "ITGA3",
        "name": "integrin subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/itga3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}