{
  "url": "https://dantelabs.com/fr/genes/best1",
  "gene": {
    "slug": "best1",
    "symbol": "BEST1",
    "name": "bestrophin 1",
    "hgnc": "HGNC:12703",
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    "location": "11q12.3",
    "locusType": "gene with protein product",
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      "BMD",
      "BEST",
      "RP50"
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      "VMD2"
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    "ensemblId": "ENSG00000167995",
    "entrezId": 7439,
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      "607854"
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    "uniprot": [
      "O76090"
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      "strand": "+",
      "ensemblTranscript": "ENST00000378043.9",
      "refseqTranscript": "NM_004183.4",
      "ensemblProtein": "ENSP00000367282.4",
      "refseqProtein": "NP_004174.1",
      "exons": [
        {
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      ],
      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
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      "chrom": "11",
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      "end": 61732987,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 61457406,
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      "genes": [
        {
          "symbol": "",
          "ensemblId": "ENSG00000256591",
          "biotype": "protein_coding",
          "start": 61429220,
          "end": 61485822,
          "strand": "+"
        },
        {
          "symbol": "SDHAF2",
          "ensemblId": "ENSG00000167985",
          "biotype": "protein_coding",
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          "end": 61473614,
          "strand": "+",
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        {
          "symbol": "SAXO4",
          "ensemblId": "ENSG00000162148",
          "biotype": "protein_coding",
          "start": 61481120,
          "end": 61490931,
          "strand": "+",
          "slug": "saxo4"
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        {
          "symbol": "LRRC10B",
          "ensemblId": "ENSG00000204950",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "lrrc10b"
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        {
          "symbol": "SYT7",
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          "biotype": "protein_coding",
          "start": 61513714,
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          "strand": "-",
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        {
          "symbol": "DAGLA",
          "ensemblId": "ENSG00000134780",
          "biotype": "protein_coding",
          "start": 61680151,
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          "strand": "+",
          "slug": "dagla"
        },
        {
          "symbol": "MYRF",
          "ensemblId": "ENSG00000124920",
          "biotype": "protein_coding",
          "start": 61752593,
          "end": 61788518,
          "strand": "+",
          "slug": "myrf"
        },
        {
          "symbol": "TMEM258",
          "ensemblId": "ENSG00000134825",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "tmem258"
        },
        {
          "symbol": "FEN1",
          "ensemblId": "ENSG00000168496",
          "biotype": "protein_coding",
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          "end": 61797238,
          "strand": "+",
          "slug": "fen1"
        },
        {
          "symbol": "FADS2",
          "ensemblId": "ENSG00000134824",
          "biotype": "protein_coding",
          "start": 61792980,
          "end": 61867354,
          "strand": "+",
          "slug": "fads2"
        },
        {
          "symbol": "FADS1",
          "ensemblId": "ENSG00000149485",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fads1"
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        {
          "symbol": "FADS3",
          "ensemblId": "ENSG00000221968",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fads3"
        },
        {
          "symbol": "RAB3IL1",
          "ensemblId": "ENSG00000167994",
          "biotype": "protein_coding",
          "start": 61897232,
          "end": 61920289,
          "strand": "-",
          "slug": "rab3il1"
        },
        {
          "symbol": "FTH1",
          "ensemblId": "ENSG00000167996",
          "biotype": "protein_coding",
          "start": 61959718,
          "end": 61967640,
          "strand": "-",
          "slug": "fth1"
        },
        {
          "symbol": "INCENP",
          "ensemblId": "ENSG00000149503",
          "biotype": "protein_coding",
          "start": 62123985,
          "end": 62155474,
          "strand": "+",
          "slug": "incenp"
        },
        {
          "symbol": "SCGB1D1",
          "ensemblId": "ENSG00000168515",
          "biotype": "protein_coding",
          "start": 62190216,
          "end": 62193539,
          "strand": "+",
          "slug": "scgb1d1"
        },
        {
          "symbol": "SCGB2A1",
          "ensemblId": "ENSG00000124939",
          "biotype": "protein_coding",
          "start": 62208666,
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          "strand": "+",
          "slug": "scgb2a1"
        },
        {
          "symbol": "SCGB1D2",
          "ensemblId": "ENSG00000124935",
          "biotype": "protein_coding",
          "start": 62242210,
          "end": 62244812,
          "strand": "+",
          "slug": "scgb1d2"
        },
        {
          "symbol": "SCGB2A2",
          "ensemblId": "ENSG00000110484",
          "biotype": "protein_coding",
          "start": 62270158,
          "end": 62273160,
          "strand": "+",
          "slug": "scgb2a2"
        },
        {
          "symbol": "SCGB1D4",
          "ensemblId": "ENSG00000197745",
          "biotype": "protein_coding",
          "start": 62296281,
          "end": 62299075,
          "strand": "-",
          "slug": "scgb1d4"
        },
        {
          "symbol": "ASRGL1",
          "ensemblId": "ENSG00000162174",
          "biotype": "protein_coding",
          "start": 62337347,
          "end": 62393415,
          "strand": "+",
          "slug": "asrgl1"
        },
        {
          "symbol": "SCGB1A1",
          "ensemblId": "ENSG00000149021",
          "biotype": "protein_coding",
          "start": 62405103,
          "end": 62423195,
          "strand": "+",
          "slug": "scgb1a1"
        },
        {
          "symbol": "AHNAK",
          "ensemblId": "ENSG00000124942",
          "biotype": "protein_coding",
          "start": 62433532,
          "end": 62556235,
          "strand": "-",
          "slug": "ahnak"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-macular-dystrophies",
        "name": "Dystrophies maculaires héréditaires",
        "diseases": [
          {
            "mondoId": "MONDO:0700238",
            "name": "Dystrophie vitelliforme maculaire de Best (liée à BEST1)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Une dystrophie maculaire dominante causée par des variants de BEST1, caractérisée par des dépôts jaunes semblables à un jaune d'œuf sous la macula.",
            "management": "Des contrôles oculaires réguliers permettent un traitement précoce des complications, comme la croissance anormale de vaisseaux sanguins.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0012733",
            "name": "Bestrophinopathie autosomique récessive",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Une dystrophie rétinienne causée par des variants affectant les deux copies de BEST1.",
            "management": "Le suivi oculaire comprend la recherche d'une pression intraoculaire élevée (glaucome par fermeture de l'angle), qui peut survenir dans cette affection.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/hereditary-macular-dystrophies"
      },
      {
        "slug": "vitreoretinopathy",
        "name": "Vitréorétinopathie",
        "diseases": [
          {
            "mondoId": "MONDO:0020248",
            "name": "Dégénérescence vitréorétinienne",
            "genes": 21,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/vitreoretinopathy"
      },
      {
        "slug": "retinitis-pigmentosa",
        "name": "Rétinite pigmentaire",
        "diseases": [
          {
            "mondoId": "MONDO:0019200",
            "name": "Rétinite pigmentaire",
            "genes": 77,
            "inheritance": null,
            "description": "Un groupe de dystrophies rétiniennes héréditaires caractérisées par la perte progressive des photorécepteurs (bâtonnets, puis cônes), entraînant une cécité nocturne et une perte graduelle de la vision périphérique.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/retinitis-pigmentosa"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-central-response-of-multifocal-electroretinogram",
        "name": "Abnormal central response of multifocal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-central-response-of-multifocal-electroretinogram"
      },
      {
        "slug": "abnormal-choroid-morphology",
        "name": "Abnormal choroid morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-choroid-morphology"
      },
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "abnormal-full-field-electroretinogram",
        "name": "Abnormal full-field electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormality-of-chorioretinal-pigmentation",
        "name": "Abnormality of chorioretinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-chorioretinal-pigmentation"
      },
      {
        "slug": "abnormal-retinal-vascular-morphology",
        "name": "Abnormality of retina blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-vascular-morphology"
      },
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "retinal-arteriolar-occlusion",
        "name": "Blocked retinal artery",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-arteriolar-occlusion"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "chorioretinal-scalloped-atrophy",
        "name": "Chorioretinal scalloped atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chorioretinal-scalloped-atrophy"
      },
      {
        "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": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyschromatopsia"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cystoid-macular-degeneration",
        "name": "Cystoid macular degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cystoid-macular-degeneration"
      },
      {
        "slug": "cystoid-macular-edema",
        "name": "Cystoid macular edema",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cystoid-macular-edema"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "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"
        ],
        "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": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/focal-retinal-arteriolar-constriction"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "iris-hypopigmentation",
        "name": "Light eye color",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-hypopigmentation"
      },
      {
        "slug": "peripheral-visual-field-loss",
        "name": "Loss of peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-visual-field-loss"
      },
      {
        "slug": "macular-dystrophy",
        "name": "Macular dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/macular-dystrophy"
      },
      {
        "slug": "metamorphopsia",
        "name": "Metamorphopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metamorphopsia"
      },
      {
        "slug": "attenuation-of-retinal-blood-vessels",
        "name": "Narrowing of blood vessels in back of eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-drusen",
        "name": "Optic disc drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-drusen"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "visual-field-defect",
        "name": "Partial loss of field of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-field-defect"
      },
      {
        "slug": "photopsia",
        "name": "Photopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/photopsia"
      },
      {
        "slug": "photoreceptor-outer-segment-loss-on-macular-oct",
        "name": "Photoreceptor outer segment loss on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photoreceptor-outer-segment-loss-on-macular-oct"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "posterior-staphyloma",
        "name": "Posterior staphyloma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/posterior-staphyloma"
      },
      {
        "slug": "posterior-subcapsular-cataract",
        "name": "Posterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract"
      },
      {
        "slug": "progressive-night-blindness",
        "name": "Progressive night blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-night-blindness"
      },
      {
        "slug": "pulverulent-cataract",
        "name": "Pulverulent cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/pulverulent-cataract"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "retinal-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "retinal-flecks",
        "name": "Retinal flecks",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-flecks"
      },
      {
        "slug": "retinal-neovascularization",
        "name": "Retinal neovascularization",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-neovascularization"
      },
      {
        "slug": "retinal-nonattachment",
        "name": "Retinal nonattachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-nonattachment"
      },
      {
        "slug": "retinal-pigment-epithelial-atrophy",
        "name": "Retinal pigment epithelial atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-atrophy"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "high-hypermetropia",
        "name": "Severe farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-hypermetropia"
      },
      {
        "slug": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina"
      },
      {
        "slug": "subretinal-fluid",
        "name": "Subretinal fluid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/subretinal-fluid"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "vitelliform-macular-lesion",
        "name": "Vitelliform macular lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vitelliform-macular-lesion"
      },
      {
        "slug": "vitreous-hemorrhage",
        "name": "Vitreous hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/vitreous-hemorrhage"
      }
    ],
    "related": [
      {
        "slug": "nr2e3",
        "symbol": "NR2E3",
        "name": "nuclear receptor subfamily 2 group E member 3",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/nr2e3"
      },
      {
        "slug": "nrl",
        "symbol": "NRL",
        "name": "neural retina leucine zipper",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/nrl"
      },
      {
        "slug": "znf408",
        "symbol": "ZNF408",
        "name": "zinc finger protein 408",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/znf408"
      },
      {
        "slug": "abca4",
        "symbol": "ABCA4",
        "name": "ATP binding cassette subfamily A member 4",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/abca4"
      },
      {
        "slug": "agbl5",
        "symbol": "AGBL5",
        "name": "AGBL carboxypeptidase 5",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/agbl5"
      },
      {
        "slug": "ahr",
        "symbol": "AHR",
        "name": "aryl hydrocarbon receptor",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ahr"
      },
      {
        "slug": "arhgef18",
        "symbol": "ARHGEF18",
        "name": "Rho/Rac guanine nucleotide exchange factor 18",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arhgef18"
      },
      {
        "slug": "arl2bp",
        "symbol": "ARL2BP",
        "name": "ARF like GTPase 2 binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arl2bp"
      },
      {
        "slug": "arl3",
        "symbol": "ARL3",
        "name": "ARF like GTPase 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arl3"
      },
      {
        "slug": "arl6",
        "symbol": "ARL6",
        "name": "ARF like GTPase 6",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arl6"
      },
      {
        "slug": "bbs2",
        "symbol": "BBS2",
        "name": "Bardet-Biedl syndrome 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bbs2"
      },
      {
        "slug": "ca4",
        "symbol": "CA4",
        "name": "carbonic anhydrase 4",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ca4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}