{
  "url": "https://dantelabs.com/nl/genes/cyp4v2",
  "gene": {
    "slug": "cyp4v2",
    "symbol": "CYP4V2",
    "name": "cytochrome P450 family 4 subfamily V member 2",
    "hgnc": "HGNC:23198",
    "summary": null,
    "location": "4q35.1-q35.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CYP4AH1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000145476",
    "entrezId": 285440,
    "omim": [
      "608614"
    ],
    "uniprot": [
      "Q6ZWL3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 186191567,
      "end": 186213463,
      "strand": "+",
      "ensemblTranscript": "ENST00000378802.5",
      "refseqTranscript": "NM_207352.4",
      "ensemblProtein": "ENSP00000368079.4",
      "refseqProtein": "NP_997235.3",
      "exons": [
        {
          "start": 186191567,
          "end": 186192037
        },
        {
          "start": 186194500,
          "end": 186194612
        },
        {
          "start": 186196003,
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        },
        {
          "start": 186196940,
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        },
        {
          "start": 186197533,
          "end": 186197602
        },
        {
          "start": 186198957,
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        },
        {
          "start": 186201157,
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        },
        {
          "start": 186205200,
          "end": 186205302
        },
        {
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        },
        {
          "start": 186209093,
          "end": 186209272
        },
        {
          "start": 186210469,
          "end": 186213463
        }
      ],
      "cds": {
        "start": 186191824,
        "end": 186210641
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 187112674,
      "end": 187134610,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 185702515,
      "end": 186702514,
      "genes": [
        {
          "symbol": "SORBS2",
          "ensemblId": "ENSG00000154556",
          "biotype": "protein_coding",
          "start": 185585444,
          "end": 185956721,
          "strand": "-",
          "slug": "sorbs2"
        },
        {
          "symbol": "TLR3",
          "ensemblId": "ENSG00000164342",
          "biotype": "protein_coding",
          "start": 186068911,
          "end": 186088073,
          "strand": "+",
          "slug": "tlr3"
        },
        {
          "symbol": "FAM149A",
          "ensemblId": "ENSG00000109794",
          "biotype": "protein_coding",
          "start": 186104419,
          "end": 186175437,
          "strand": "+",
          "slug": "fam149a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000290316",
          "biotype": "protein_coding",
          "start": 186208979,
          "end": 186258469,
          "strand": "+"
        },
        {
          "symbol": "KLKB1",
          "ensemblId": "ENSG00000164344",
          "biotype": "protein_coding",
          "start": 186225424,
          "end": 186258476,
          "strand": "+",
          "slug": "klkb1"
        },
        {
          "symbol": "F11",
          "ensemblId": "ENSG00000088926",
          "biotype": "protein_coding",
          "start": 186260159,
          "end": 186291745,
          "strand": "+",
          "slug": "f11"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272297",
          "biotype": "protein_coding",
          "start": 186426546,
          "end": 186555328,
          "strand": "-"
        },
        {
          "symbol": "MTNR1A",
          "ensemblId": "ENSG00000168412",
          "biotype": "protein_coding",
          "start": 186526792,
          "end": 186555567,
          "strand": "-",
          "slug": "mtnr1a"
        },
        {
          "symbol": "FAT1",
          "ensemblId": "ENSG00000083857",
          "biotype": "protein_coding",
          "start": 186586717,
          "end": 186726722,
          "strand": "-",
          "slug": "fat1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-macular-dystrophies",
        "name": "Erfelijke maculadystrofieën",
        "diseases": [
          {
            "mondoId": "MONDO:0008865",
            "name": "Bietti-kristallijne corneoretinale dystrofie",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Een recessief overervende netvliesdystrofie veroorzaakt door veranderingen in beide kopieën van CYP4V2, met glinsterende kristallen in het netvlies en progressief zichtverlies.",
            "management": "Een genetische diagnose kan toegang geven tot klinische onderzoeken met gentherapie.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/hereditary-macular-dystrophies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "corneal-crystals",
        "name": "Corneal crystals",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-crystals"
      },
      {
        "slug": "cystoid-macular-edema",
        "name": "Cystoid macular edema",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cystoid-macular-edema"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "decreased-light-and-dark-adapted-electroretinogram-amplitude",
        "name": "Decreased light- and dark-adapted electroretinogram amplitude",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-light-and-dark-adapted-electroretinogram-amplitude"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "large-central-visual-field-defect",
        "name": "Large central loss of field of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/large-central-visual-field-defect"
      },
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "slug": "marginal-corneal-dystrophy",
        "name": "Marginal corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/marginal-corneal-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": "paracentral-scotoma",
        "name": "Paracentral scotoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/paracentral-scotoma"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "progressive-night-blindness",
        "name": "Progressive night blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/progressive-night-blindness"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "retinal-pigment-epithelial-atrophy",
        "name": "Retinal pigment epithelial atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-atrophy"
      },
      {
        "slug": "retinal-pigment-epithelial-mottling",
        "name": "Retinal pigment epithelial mottling",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-mottling"
      },
      {
        "slug": "retinal-thinning-on-oct",
        "name": "Retinal thinning",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-thinning-on-oct"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "subretinal-deposits",
        "name": "Subretinal deposits",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subretinal-deposits"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}