{
  "url": "https://dantelabs.com/nl/genes/col4a4",
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      "build": "GRCh37",
      "release": "87",
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    },
    "neighbourhood": {
      "release": "116",
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      "genes": [
        {
          "symbol": "IRS1",
          "ensemblId": "ENSG00000169047",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "irs1"
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        {
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          "slug": "rhbdd1"
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        {
          "symbol": "COL4A3",
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          "strand": "+",
          "slug": "col4a3"
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        {
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        {
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          "slug": "agfg1"
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    "reports": [
      {
        "slug": "alport-syndrome",
        "name": "Alport-syndroom",
        "diseases": [
          {
            "mondoId": "MONDO:0018965",
            "name": "Alport-syndroom",
            "genes": 3,
            "inheritance": null,
            "description": "Een zeldzame nieraandoening die wordt gekenmerkt door glomerulaire nefropathie met hematurie die voortschrijdt tot terminale nierinsufficiëntie (ESRD), vaak gepaard gaande met sensorineuraal doofheid en soms met oogafwijkingen.",
            "management": "ACE-remmers (ramipril, eerstekeuze, bij voorkeur vóór het ontstaan van proteïnurie); ARB's bij intolerantie voor ACE-remmers; niertransplantatie bij ESRD; gehoorapparaten; jaarlijkse oftalmologische en audiologische controles",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/alport-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "anterior-lenticonus",
        "name": "Anterior lenticonus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anterior-lenticonus"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "macroscopic-hematuria",
        "name": "Bloody urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macroscopic-hematuria"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "corneal-dystrophy",
        "name": "Corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/corneal-dystrophy"
      },
      {
        "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": "hypoparathyroidism",
        "name": "Decreased parathyroid hormone secretion",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/hypoparathyroidism"
      },
      {
        "slug": "diffuse-leiomyomatosis",
        "name": "Diffuse leiomyomatosis",
        "systems": [
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/diffuse-leiomyomatosis"
      },
      {
        "slug": "focal-retinal-arteriolar-constriction",
        "name": "Focal retinal arteriolar constriction",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/focal-retinal-arteriolar-constriction"
      },
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Focal segmental glomerulosclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis"
      },
      {
        "slug": "glomerular-basement-membrane-lamellation",
        "name": "Glomerular basement membrane lamellation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glomerular-basement-membrane-lamellation"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hypertensive-retinopathy",
        "name": "Hypertensive retinopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertensive-retinopathy"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "nephritis",
        "name": "Kidney inflammation",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/nephritis"
      },
      {
        "slug": "lenticonus",
        "name": "Lenticonus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lenticonus"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "multiple-renal-cysts",
        "name": "Multiple kidney cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/multiple-renal-cysts"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "slug": "recurrent-corneal-erosions",
        "name": "Recurrent breakdown of clear protective layer of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/recurrent-corneal-erosions"
      },
      {
        "slug": "reduced-epidermal-collagen-iv-alpha-5-chain-staining",
        "name": "Reduced epidermal collagen IV alpha 5 chain staining",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-epidermal-collagen-iv-alpha-5-chain-staining"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "retinal-hemorrhage",
        "name": "Retinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-hemorrhage"
      },
      {
        "slug": "retinal-flecks",
        "name": "Retinal flecks",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-flecks"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "microscopic-hematuria",
        "name": "Small amount of blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/microscopic-hematuria"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "subcapsular-cataract",
        "name": "Subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subcapsular-cataract"
      },
      {
        "slug": "thickened-glomerular-basement-membrane",
        "name": "Thickened glomerular basement membrane",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/thickened-glomerular-basement-membrane"
      },
      {
        "slug": "thin-glomerular-basement-membrane",
        "name": "Thin glomerular basement membrane",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/thin-glomerular-basement-membrane"
      }
    ],
    "related": [
      {
        "slug": "col4a3",
        "symbol": "COL4A3",
        "name": "collagen type IV alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/col4a3"
      },
      {
        "slug": "col4a5",
        "symbol": "COL4A5",
        "name": "collagen type IV alpha 5 chain",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/col4a5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}