{
  "url": "https://dantelabs.com/nl/genes/gucy2d",
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        {
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        {
          "symbol": "RNF227",
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        {
          "symbol": "ALOX12B",
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        {
          "symbol": "ALOXE3",
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        {
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        {
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        {
          "symbol": "VAMP2",
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          "symbol": "BORCS6",
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          "symbol": "AURKB",
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        {
          "symbol": "CTC1",
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          "symbol": "PFAS",
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          "biotype": "protein_coding",
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        {
          "symbol": "SLC25A35",
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          "biotype": "protein_coding",
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          "slug": "slc25a35"
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        {
          "symbol": "RANGRF",
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          "biotype": "protein_coding",
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        {
          "symbol": "ARHGEF15",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "arhgef15"
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        {
          "symbol": "ODF4",
          "ensemblId": "ENSG00000184650",
          "biotype": "protein_coding",
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          "slug": "odf4"
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        {
          "symbol": "KRABD2",
          "ensemblId": "ENSG00000184619",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "krabd2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000263809",
          "biotype": "protein_coding",
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          "end": 8383187,
          "strand": "-"
        },
        {
          "symbol": "RPL26",
          "ensemblId": "ENSG00000161970",
          "biotype": "protein_coding",
          "start": 8377500,
          "end": 8384062,
          "strand": "-",
          "slug": "rpl26"
        },
        {
          "symbol": "RNF222",
          "ensemblId": "ENSG00000189051",
          "biotype": "protein_coding",
          "start": 8390702,
          "end": 8397827,
          "strand": "-",
          "slug": "rnf222"
        },
        {
          "symbol": "NDEL1",
          "ensemblId": "ENSG00000166579",
          "biotype": "protein_coding",
          "start": 8408528,
          "end": 8501107,
          "strand": "+",
          "slug": "ndel1"
        },
        {
          "symbol": "MYH10",
          "ensemblId": "ENSG00000133026",
          "biotype": "protein_coding",
          "start": 8474205,
          "end": 8632303,
          "strand": "-",
          "slug": "myh10"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-stationary-night-blindness",
        "name": "Congenitale stationaire nachtblindheid",
        "diseases": [
          {
            "mondoId": "MONDO:0016293",
            "name": "Congenitale stationaire nachtblindheid",
            "genes": 16,
            "inheritance": null,
            "description": "Een groep netvliesaandoeningen die meestal niet progressief zijn, waaronder de ziekte van Oguchi, veroorzaakt door veranderingen in genen zoals NYX, CACNA1F, TRPM1, GRM6, GPR179 en SAG, vaak met nystagmus of kortzichtigheid.",
            "management": "Een genetische diagnose verklaart de klachten, helpt de aandoening te onderscheiden van progressieve netvliesziekten en geeft richting aan erfelijkheidsadvies voor de familie.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/congenital-stationary-night-blindness"
      },
      {
        "slug": "leber-congenital-amaurosis",
        "name": "Leber-congenitale Amaurose & RPE65-gerelateerde retinopathie",
        "diseases": [
          {
            "mondoId": "MONDO:0018998",
            "name": "Leber-congenitale amaurose",
            "genes": 21,
            "inheritance": "autosomal-recessive",
            "description": "Een groep erfelijke netvliesdystrofieën, veroorzaakt door veranderingen in genen zoals CEP290, GUCY2D, CRB1, RPE65 en AIPL1, die in de zuigelingenleeftijd leiden tot ernstig verlies van het gezichtsvermogen, nystagmus en een slechte pupilreactie.",
            "management": "Bevestiging van het gen kan bepalen of u in aanmerking komt voor genspecifieke behandelingen en klinische studies, en helpt bij gezinsadvies.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/leber-congenital-amaurosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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": "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-optic-disc-morphology",
        "name": "Abnormal optic disc morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology"
      },
      {
        "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-neuronal-migration",
        "name": "Abnormality of neuronal migration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration"
      },
      {
        "slug": "absent-retinal-pigment-epithelium",
        "name": "Absent retinal pigment epithelium",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-retinal-pigment-epithelium"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-cerebellar-vermis",
        "name": "Aplasia/Hypoplasia of the cerebellar vermis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellar-vermis"
      },
      {
        "slug": "atrophic-fundus-lesion",
        "name": "Atrophic fundus lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/atrophic-fundus-lesion"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "tritanomaly",
        "name": "Blue yellow color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tritanomaly"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "choriocapillaris-atrophy",
        "name": "Choriocapillaris atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choriocapillaris-atrophy"
      },
      {
        "slug": "chorioretinal-atrophy",
        "name": "Chorioretinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dyschromatopsia"
      },
      {
        "slug": "cone-cone-rod-dystrophy",
        "name": "Cone/cone-rod dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cone-cone-rod-dystrophy"
      },
      {
        "slug": "hemeralopia",
        "name": "Day blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hemeralopia"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "drusen",
        "name": "Drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/drusen"
      },
      {
        "slug": "encephalocele",
        "name": "Encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/encephalocele"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "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": "eye-poking",
        "name": "Eye poking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eye-poking"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "foveal-photoreceptor-outer-segment-loss-on-macular-oct",
        "name": "Foveal photoreceptor outer segment loss on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/foveal-photoreceptor-outer-segment-loss-on-macular-oct"
      },
      {
        "slug": "full-thickness-macular-hole",
        "name": "Full-thickness macular hole",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/full-thickness-macular-hole"
      },
      {
        "slug": "fundus-hypopigmentation",
        "name": "Fundus hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fundus-hypopigmentation"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hyperthreoninemia",
        "name": "High blood threonine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperthreoninemia"
      },
      {
        "slug": "hyperthreoninuria",
        "name": "High urine threonine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hyperthreoninuria"
      },
      {
        "slug": "hyperautofluorescent-macular-lesion",
        "name": "Hyperautofluorescent macular lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperautofluorescent-macular-lesion"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "peripheral-visual-field-loss",
        "name": "Loss of peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/peripheral-visual-field-loss"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "macular-atrophy",
        "name": "Macular atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macular-atrophy"
      },
      {
        "slug": "severely-reduced-visual-acuity",
        "name": "Marked vision impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity"
      },
      {
        "slug": "metamorphopsia",
        "name": "Metamorphopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/metamorphopsia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "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": "early-onset-non-progressive-night-blindness",
        "name": "Night blindness since birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/early-onset-non-progressive-night-blindness"
      },
      {
        "slug": "optic-disc-drusen",
        "name": "Optic disc drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "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": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "slug": "perifoveal-ring-of-hyperautofluorescence",
        "name": "Perifoveal ring of hyperautofluorescence",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/perifoveal-ring-of-hyperautofluorescence"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "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-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-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": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "slow-decrease-in-visual-acuity",
        "name": "Slow decrease in sharpness of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slow-decrease-in-visual-acuity"
      },
      {
        "slug": "slow-pupillary-light-response",
        "name": "Slow pupillary light response",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slow-pupillary-light-response"
      },
      {
        "slug": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [
      {
        "slug": "aipl1",
        "symbol": "AIPL1",
        "name": "AIP like 1 HSP90 co-chaperone",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/aipl1"
      },
      {
        "slug": "cabp4",
        "symbol": "CABP4",
        "name": "calcium binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cabp4"
      },
      {
        "slug": "cacna1f",
        "symbol": "CACNA1F",
        "name": "calcium voltage-gated channel subunit alpha1 F",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cacna1f"
      },
      {
        "slug": "cct2",
        "symbol": "CCT2",
        "name": "chaperonin containing TCP1 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cct2"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "name": "centrosomal protein 290",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cep290"
      },
      {
        "slug": "crb1",
        "symbol": "CRB1",
        "name": "crumbs cell polarity complex component 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/crb1"
      },
      {
        "slug": "crx",
        "symbol": "CRX",
        "name": "cone-rod homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/crx"
      },
      {
        "slug": "gnat1",
        "symbol": "GNAT1",
        "name": "G protein subunit alpha transducin 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gnat1"
      },
      {
        "slug": "gnb3",
        "symbol": "GNB3",
        "name": "G protein subunit beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gnb3"
      },
      {
        "slug": "gpr179",
        "symbol": "GPR179",
        "name": "G protein-coupled receptor 179",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gpr179"
      },
      {
        "slug": "grk1",
        "symbol": "GRK1",
        "name": "G protein-coupled receptor kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/grk1"
      },
      {
        "slug": "grm6",
        "symbol": "GRM6",
        "name": "glutamate metabotropic receptor 6",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/grm6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}