{
  "url": "https://dantelabs.com/nl/genes/cngb3",
  "gene": {
    "slug": "cngb3",
    "symbol": "CNGB3",
    "name": "cyclic nucleotide gated channel subunit beta 3",
    "hgnc": "HGNC:2153",
    "summary": null,
    "location": "8q21.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "ACHM3",
      "ACHM1",
      "RMCH"
    ],
    "ensemblId": "ENSG00000170289",
    "entrezId": 54714,
    "omim": [
      "605080"
    ],
    "uniprot": [
      "Q9NQW8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 86574179,
      "end": 86743634,
      "strand": "-",
      "ensemblTranscript": "ENST00000320005.6",
      "refseqTranscript": "NM_019098.5",
      "ensemblProtein": "ENSP00000316605.5",
      "refseqProtein": "NP_061971.3",
      "exons": [
        {
          "start": 86574179,
          "end": 86576130
        },
        {
          "start": 86578689,
          "end": 86578863
        },
        {
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        },
        {
          "start": 86604093,
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        },
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        },
        {
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        },
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        },
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        },
        {
          "start": 86654012,
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        },
        {
          "start": 86666925,
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        },
        {
          "start": 86668019,
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        },
        {
          "start": 86670944,
          "end": 86671098
        },
        {
          "start": 86726531,
          "end": 86726657
        },
        {
          "start": 86739655,
          "end": 86739736
        },
        {
          "start": 86743499,
          "end": 86743634
        }
      ],
      "cds": {
        "start": 86575804,
        "end": 86743627
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 87566205,
      "end": 87755903,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 86158907,
      "end": 87158906,
      "genes": [
        {
          "symbol": "SLC7A13",
          "ensemblId": "ENSG00000164893",
          "biotype": "protein_coding",
          "start": 86214063,
          "end": 86321146,
          "strand": "-",
          "slug": "slc7a13"
        },
        {
          "symbol": "WWP1",
          "ensemblId": "ENSG00000123124",
          "biotype": "protein_coding",
          "start": 86342486,
          "end": 86478420,
          "strand": "+",
          "slug": "wwp1"
        },
        {
          "symbol": "RMDN1",
          "ensemblId": "ENSG00000176623",
          "biotype": "protein_coding",
          "start": 86467055,
          "end": 86514357,
          "strand": "-",
          "slug": "rmdn1"
        },
        {
          "symbol": "CPNE3",
          "ensemblId": "ENSG00000085719",
          "biotype": "protein_coding",
          "start": 86514421,
          "end": 86561498,
          "strand": "+",
          "slug": "cpne3"
        },
        {
          "symbol": "CNBD1",
          "ensemblId": "ENSG00000176571",
          "biotype": "protein_coding",
          "start": 86866407,
          "end": 87615219,
          "strand": "+",
          "slug": "cnbd1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "achromatopsia",
        "name": "Achromatopsie",
        "diseases": [
          {
            "mondoId": "MONDO:0100446",
            "name": "CNGB3-gerelateerde retinopathie",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Een kegeldystrofie veroorzaakt door veranderingen in beide kopieën van CNGB3, de meest voorkomende oorzaak van achromatopsie.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0018852",
            "name": "Achromatopsie",
            "genes": 7,
            "inheritance": null,
            "description": "Achromatopsie (ACHM) is een zeldzame autosomaal recessieve netvliesaandoening, gekenmerkt door kleurenblindheid, nystagmus, fotofobie en een sterk verminderde gezichtsscherpte als gevolg van het ontbreken of verminderd functioneren van de kegeltjes.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/achromatopsia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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": "very-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-foveal-morphology",
        "name": "Abnormal foveal morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-foveal-morphology"
      },
      {
        "slug": "abnormal-macular-morphology",
        "name": "Abnormal macular morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-macular-morphology"
      },
      {
        "slug": "abnormal-macular-pigmentation",
        "name": "Abnormal macular pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-macular-pigmentation"
      },
      {
        "slug": "abnormal-pupillary-light-reflex",
        "name": "Abnormal pupillary light reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pupillary-light-reflex"
      },
      {
        "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-refraction",
        "name": "Abnormality of refraction",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-refraction"
      },
      {
        "slug": "abnormality-of-visual-evoked-potentials",
        "name": "Abnormality of visual evoked potentials",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-visual-evoked-potentials"
      },
      {
        "slug": "absent-foveal-reflex",
        "name": "Absent foveal reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-foveal-reflex"
      },
      {
        "slug": "achromatopsia",
        "name": "Achromatopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/achromatopsia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-macula",
        "name": "Aplasia/Hypoplasia of the macula",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-macula"
      },
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "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": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyschromatopsia"
      },
      {
        "slug": "color-vision-test-abnormality",
        "name": "Color vision test abnormality",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/color-vision-test-abnormality"
      },
      {
        "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": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "eccentric-visual-fixation",
        "name": "Eccentric visual fixation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eccentric-visual-fixation"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "horizontal-pendular-nystagmus",
        "name": "Horizontal pendular nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/horizontal-pendular-nystagmus"
      },
      {
        "slug": "hypoplasia-of-the-fovea",
        "name": "Hypoplasia of the fovea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea"
      },
      {
        "slug": "inner-retinal-layer-loss-on-macular-oct",
        "name": "Inner retinal layer loss on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/inner-retinal-layer-loss-on-macular-oct"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "macular-degeneration",
        "name": "Macular degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macular-degeneration"
      },
      {
        "slug": "severely-reduced-visual-acuity",
        "name": "Marked vision impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity"
      },
      {
        "slug": "moderately-reduced-visual-acuity",
        "name": "Moderate visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/moderately-reduced-visual-acuity"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "paroxysmal-involuntary-eye-movements",
        "name": "Paroxysmal involuntary eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-involuntary-eye-movements"
      },
      {
        "slug": "pendular-nystagmus",
        "name": "Pendular nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pendular-nystagmus"
      },
      {
        "slug": "photopsia",
        "name": "Photopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photopsia"
      },
      {
        "slug": "retinal-pigment-epithelial-atrophy",
        "name": "Retinal pigment epithelial atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-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": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-mottling"
      },
      {
        "slug": "retinal-thinning-on-oct",
        "name": "Retinal thinning",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-thinning-on-oct"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "monochromacy",
        "name": "Total colorblindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/monochromacy"
      },
      {
        "slug": "undetectable-light-adapted-electroretinogram",
        "name": "Undetectable light-adapted electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/undetectable-light-adapted-electroretinogram"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "yellow-white-macular-lesion",
        "name": "Yellow/white macular lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/yellow-white-macular-lesion"
      }
    ],
    "related": [
      {
        "slug": "atf6",
        "symbol": "ATF6",
        "name": "activating transcription factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atf6"
      },
      {
        "slug": "cnga3",
        "symbol": "CNGA3",
        "name": "cyclic nucleotide gated channel subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cnga3"
      },
      {
        "slug": "gnat2",
        "symbol": "GNAT2",
        "name": "G protein subunit alpha transducin 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gnat2"
      },
      {
        "slug": "opn1lw",
        "symbol": "OPN1LW",
        "name": "opsin 1, long wave sensitive",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/opn1lw"
      },
      {
        "slug": "opn1mw",
        "symbol": "OPN1MW",
        "name": "opsin 1, medium wave sensitive",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/opn1mw"
      },
      {
        "slug": "pde6h",
        "symbol": "PDE6H",
        "name": "phosphodiesterase 6H",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/pde6h"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}