{
  "url": "https://dantelabs.com/el/genes/pde6b",
  "gene": {
    "slug": "pde6b",
    "symbol": "PDE6B",
    "name": "phosphodiesterase 6B",
    "hgnc": "HGNC:8786",
    "summary": null,
    "location": "4p16.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CSNB3",
      "rd1",
      "RP40",
      "CSNBAD2"
    ],
    "previousSymbols": [
      "PDEB"
    ],
    "ensemblId": "ENSG00000133256",
    "entrezId": 5158,
    "omim": [
      "180072"
    ],
    "uniprot": [
      "P35913"
    ],
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      "release": "v1.5",
      "chrom": "4",
      "start": 625573,
      "end": 670782,
      "strand": "+",
      "ensemblTranscript": "ENST00000496514.6",
      "refseqTranscript": "NM_000283.4",
      "ensemblProtein": "ENSP00000420295.1",
      "refseqProtein": "NP_000274.3",
      "exons": [
        {
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        {
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        {
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        {
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        {
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        {
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        {
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        }
      ],
      "cds": {
        "start": 625627,
        "end": 670107
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 619373,
      "end": 664571,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "genes": [
        {
          "symbol": "ZNF718",
          "ensemblId": "ENSG00000250312",
          "biotype": "protein_coding",
          "start": 124456,
          "end": 210714,
          "strand": "+",
          "slug": "znf718"
        },
        {
          "symbol": "ZNF732",
          "ensemblId": "ENSG00000186777",
          "biotype": "protein_coding",
          "start": 270675,
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          "strand": "-",
          "slug": "znf732"
        },
        {
          "symbol": "ZNF141",
          "ensemblId": "ENSG00000131127",
          "biotype": "protein_coding",
          "start": 337762,
          "end": 384868,
          "strand": "+",
          "slug": "znf141"
        },
        {
          "symbol": "ZNF721",
          "ensemblId": "ENSG00000182903",
          "biotype": "protein_coding",
          "start": 391179,
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          "strand": "-",
          "slug": "znf721"
        },
        {
          "symbol": "PIGG",
          "ensemblId": "ENSG00000174227",
          "biotype": "protein_coding",
          "start": 499195,
          "end": 541173,
          "strand": "+",
          "slug": "pigg"
        },
        {
          "symbol": "TMEM271",
          "ensemblId": "ENSG00000273238",
          "biotype": "protein_coding",
          "start": 573880,
          "end": 576295,
          "strand": "-",
          "slug": "tmem271"
        },
        {
          "symbol": "ATP5ME",
          "ensemblId": "ENSG00000169020",
          "biotype": "protein_coding",
          "start": 672423,
          "end": 674400,
          "strand": "-",
          "slug": "atp5me"
        },
        {
          "symbol": "MYL5",
          "ensemblId": "ENSG00000215375",
          "biotype": "protein_coding",
          "start": 673519,
          "end": 682033,
          "strand": "+",
          "slug": "myl5"
        },
        {
          "symbol": "SLC49A3",
          "ensemblId": "ENSG00000169026",
          "biotype": "protein_coding",
          "start": 681824,
          "end": 689548,
          "strand": "-",
          "slug": "slc49a3"
        },
        {
          "symbol": "PCGF3",
          "ensemblId": "ENSG00000185619",
          "biotype": "protein_coding",
          "start": 705748,
          "end": 770089,
          "strand": "+",
          "slug": "pcgf3"
        },
        {
          "symbol": "CPLX1",
          "ensemblId": "ENSG00000168993",
          "biotype": "protein_coding",
          "start": 784957,
          "end": 827043,
          "strand": "-",
          "slug": "cplx1"
        },
        {
          "symbol": "GAK",
          "ensemblId": "ENSG00000178950",
          "biotype": "protein_coding",
          "start": 849275,
          "end": 932411,
          "strand": "-",
          "slug": "gak"
        },
        {
          "symbol": "TMEM175",
          "ensemblId": "ENSG00000127419",
          "biotype": "protein_coding",
          "start": 932153,
          "end": 958989,
          "strand": "+",
          "slug": "tmem175"
        },
        {
          "symbol": "DGKQ",
          "ensemblId": "ENSG00000145214",
          "biotype": "protein_coding",
          "start": 958884,
          "end": 986895,
          "strand": "-",
          "slug": "dgkq"
        },
        {
          "symbol": "SLC26A1",
          "ensemblId": "ENSG00000145217",
          "biotype": "protein_coding",
          "start": 978992,
          "end": 997659,
          "strand": "-",
          "slug": "slc26a1"
        },
        {
          "symbol": "IDUA",
          "ensemblId": "ENSG00000127415",
          "biotype": "protein_coding",
          "start": 986997,
          "end": 1008344,
          "strand": "+",
          "slug": "idua"
        },
        {
          "symbol": "FGFRL1",
          "ensemblId": "ENSG00000127418",
          "biotype": "protein_coding",
          "start": 1008649,
          "end": 1026901,
          "strand": "+",
          "slug": "fgfrl1"
        },
        {
          "symbol": "RNF212",
          "ensemblId": "ENSG00000178222",
          "biotype": "protein_coding",
          "start": 1056247,
          "end": 1113697,
          "strand": "-",
          "slug": "rnf212"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-stationary-night-blindness",
        "name": "Εκ γενετής στατική νυχτερινή τύφλωση",
        "diseases": [
          {
            "mondoId": "MONDO:0016293",
            "name": "Εκ γενετής στατική νυχτερινή τύφλωση",
            "genes": 16,
            "inheritance": null,
            "description": "Μια ομάδα κυρίως μη προοδευτικών παθήσεων του αμφιβληστροειδούς, συμπεριλαμβανομένης της νόσου Oguchi, που προκαλείται από αλλαγές σε γονίδια όπως τα NYX, CACNA1F, TRPM1, GRM6, GPR179 και SAG, συχνά με νυσταγμό ή μυωπία.",
            "management": "Μια γενετική διάγνωση εξηγεί τα συμπτώματα, βοηθά στη διάκριση της πάθησης από προοδευτικές νόσους του αμφιβληστροειδούς και καθοδηγεί τη γενετική συμβουλευτική για την οικογένεια.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/congenital-stationary-night-blindness"
      },
      {
        "slug": "retinitis-pigmentosa",
        "name": "Χρωστική retinitis (Retinitis Pigmentosa)",
        "diseases": [
          {
            "mondoId": "MONDO:0019200",
            "name": "Χρωστική retinitis (Retinitis Pigmentosa)",
            "genes": 77,
            "inheritance": null,
            "description": "Μια ομάδα κληρονομικών δυστροφιών του αμφιβληστροειδούς με προοδευτική απώλεια αρχικά των ραβδίων και στη συνέχεια των κωνίων φωτοϋποδοχέων, που προκαλεί νυχτερινή τύφλωση και σταδιακή απώλεια της περιφερειακής όρασης.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/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": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "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-light-and-dark-adapted-electroretinogram",
        "name": "Abnormal light- and dark-adapted electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-light-and-dark-adapted-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": "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": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "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": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "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": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "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": "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": "moderate-myopia",
        "name": "Moderate myopia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/moderate-myopia"
      },
      {
        "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": "obligate",
        "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"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/early-onset-non-progressive-night-blindness"
      },
      {
        "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": "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": "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": "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": "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": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "rho",
        "symbol": "RHO",
        "name": "rhodopsin",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/rho"
      },
      {
        "slug": "sag",
        "symbol": "SAG",
        "name": "S-antigen visual arrestin",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/sag"
      },
      {
        "slug": "abca4",
        "symbol": "ABCA4",
        "name": "ATP binding cassette subfamily A member 4",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/abca4"
      },
      {
        "slug": "agbl5",
        "symbol": "AGBL5",
        "name": "AGBL carboxypeptidase 5",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/agbl5"
      },
      {
        "slug": "ahr",
        "symbol": "AHR",
        "name": "aryl hydrocarbon receptor",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ahr"
      },
      {
        "slug": "arhgef18",
        "symbol": "ARHGEF18",
        "name": "Rho/Rac guanine nucleotide exchange factor 18",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/arhgef18"
      },
      {
        "slug": "arl2bp",
        "symbol": "ARL2BP",
        "name": "ARF like GTPase 2 binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/arl2bp"
      },
      {
        "slug": "arl3",
        "symbol": "ARL3",
        "name": "ARF like GTPase 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/arl3"
      },
      {
        "slug": "arl6",
        "symbol": "ARL6",
        "name": "ARF like GTPase 6",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/arl6"
      },
      {
        "slug": "bbs2",
        "symbol": "BBS2",
        "name": "Bardet-Biedl syndrome 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/bbs2"
      },
      {
        "slug": "best1",
        "symbol": "BEST1",
        "name": "bestrophin 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/best1"
      },
      {
        "slug": "ca4",
        "symbol": "CA4",
        "name": "carbonic anhydrase 4",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ca4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}