{
  "url": "https://dantelabs.com/pl/genes/pde6h",
  "gene": {
    "slug": "pde6h",
    "symbol": "PDE6H",
    "name": "phosphodiesterase 6H",
    "hgnc": "HGNC:8790",
    "summary": null,
    "location": "12p12.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000139053",
    "entrezId": 5149,
    "omim": [
      "601190"
    ],
    "uniprot": [
      "Q13956"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 14973042,
      "end": 14981865,
      "strand": "+",
      "ensemblTranscript": "ENST00000266395.3",
      "refseqTranscript": "NM_006205.3",
      "ensemblProtein": "ENSP00000266395.2",
      "refseqProtein": "NP_006196.1",
      "exons": [
        {
          "start": 14973042,
          "end": 14973086
        },
        {
          "start": 14977972,
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        },
        {
          "start": 14979179,
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        },
        {
          "start": 14981400,
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        }
      ],
      "cds": {
        "start": 14978013,
        "end": 14981476
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 15125956,
      "end": 15134799,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 14477454,
      "end": 15477453,
      "genes": [
        {
          "symbol": "ATF7IP",
          "ensemblId": "ENSG00000171681",
          "biotype": "protein_coding",
          "start": 14365439,
          "end": 14502931,
          "strand": "+",
          "slug": "atf7ip"
        },
        {
          "symbol": "PLBD1",
          "ensemblId": "ENSG00000121316",
          "biotype": "protein_coding",
          "start": 14503660,
          "end": 14567928,
          "strand": "-",
          "slug": "plbd1"
        },
        {
          "symbol": "GUCY2C",
          "ensemblId": "ENSG00000070019",
          "biotype": "protein_coding",
          "start": 14612632,
          "end": 14696652,
          "strand": "-",
          "slug": "gucy2c"
        },
        {
          "symbol": "H4C16",
          "ensemblId": "ENSG00000197837",
          "biotype": "protein_coding",
          "start": 14767999,
          "end": 14771131,
          "strand": "-",
          "slug": "h4c16"
        },
        {
          "symbol": "H2AJ",
          "ensemblId": "ENSG00000246705",
          "biotype": "protein_coding",
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          "end": 14778002,
          "strand": "+",
          "slug": "h2aj"
        },
        {
          "symbol": "WBP11",
          "ensemblId": "ENSG00000084463",
          "biotype": "protein_coding",
          "start": 14783595,
          "end": 14803510,
          "strand": "-",
          "slug": "wbp11"
        },
        {
          "symbol": "C12orf60",
          "ensemblId": "ENSG00000182993",
          "biotype": "protein_coding",
          "start": 14802864,
          "end": 14906586,
          "strand": "+",
          "slug": "c12orf60"
        },
        {
          "symbol": "SMCO3",
          "ensemblId": "ENSG00000179256",
          "biotype": "protein_coding",
          "start": 14804065,
          "end": 14814189,
          "strand": "-",
          "slug": "smco3"
        },
        {
          "symbol": "ART4",
          "ensemblId": "ENSG00000111339",
          "biotype": "protein_coding",
          "start": 14822378,
          "end": 14843630,
          "strand": "-",
          "slug": "art4"
        },
        {
          "symbol": "MGP",
          "ensemblId": "ENSG00000111341",
          "biotype": "protein_coding",
          "start": 14879368,
          "end": 14905245,
          "strand": "-",
          "slug": "mgp"
        },
        {
          "symbol": "ERP27",
          "ensemblId": "ENSG00000139055",
          "biotype": "protein_coding",
          "start": 14912600,
          "end": 14938557,
          "strand": "-",
          "slug": "erp27"
        },
        {
          "symbol": "ARHGDIB",
          "ensemblId": "ENSG00000111348",
          "biotype": "protein_coding",
          "start": 14942009,
          "end": 14961985,
          "strand": "-",
          "slug": "arhgdib"
        },
        {
          "symbol": "RERG",
          "ensemblId": "ENSG00000134533",
          "biotype": "protein_coding",
          "start": 15107783,
          "end": 15390485,
          "strand": "-",
          "slug": "rerg"
        },
        {
          "symbol": "PTPRO",
          "ensemblId": "ENSG00000151490",
          "biotype": "protein_coding",
          "start": 15322257,
          "end": 15602175,
          "strand": "+",
          "slug": "ptpro"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "achromatopsia",
        "name": "Achromatopsja",
        "diseases": [
          {
            "mondoId": "MONDO:0018852",
            "name": "Achromatopsja",
            "genes": 7,
            "inheritance": null,
            "description": "Achromatopsja (ACHM) to rzadkie autosomalne recesywne zaburzenie siatkówki, charakteryzujące się daltonizmem barwnym, oczopląsem, fotofobią oraz znacznie obniżoną ostrością wzroku, spowodowanymi brakiem lub upośledzeniem funkcji czopków.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/achromatopsia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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-light-adapted-flicker-electroretinogram",
        "name": "Abnormal light-adapted flicker electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-light-adapted-flicker-electroretinogram"
      },
      {
        "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-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": "abnormality-of-refraction",
        "name": "Abnormality of refraction",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-refraction"
      },
      {
        "slug": "absent-foveal-reflex",
        "name": "Absent foveal reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-foveal-reflex"
      },
      {
        "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": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "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": "cone-dystrophy",
        "name": "Cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cone-dystrophy"
      },
      {
        "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": "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": "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": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "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": "pendular-nystagmus",
        "name": "Pendular nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pendular-nystagmus"
      },
      {
        "slug": "retinal-pigment-epithelial-atrophy",
        "name": "Retinal pigment epithelial atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "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": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "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"
      }
    ],
    "related": [
      {
        "slug": "atf6",
        "symbol": "ATF6",
        "name": "activating transcription factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/atf6"
      },
      {
        "slug": "cnga3",
        "symbol": "CNGA3",
        "name": "cyclic nucleotide gated channel subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cnga3"
      },
      {
        "slug": "cngb3",
        "symbol": "CNGB3",
        "name": "cyclic nucleotide gated channel subunit beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cngb3"
      },
      {
        "slug": "gnat2",
        "symbol": "GNAT2",
        "name": "G protein subunit alpha transducin 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/gnat2"
      },
      {
        "slug": "opn1lw",
        "symbol": "OPN1LW",
        "name": "opsin 1, long wave sensitive",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/opn1lw"
      },
      {
        "slug": "opn1mw",
        "symbol": "OPN1MW",
        "name": "opsin 1, medium wave sensitive",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/opn1mw"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}