{
  "url": "https://dantelabs.com/ro/genes/rpgr",
  "gene": {
    "slug": "rpgr",
    "symbol": "RPGR",
    "name": "retinitis pigmentosa GTPase regulator",
    "hgnc": "HGNC:10295",
    "summary": null,
    "location": "Xp11.4",
    "locusType": "gene with protein product",
    "aliases": [
      "CORDX1"
    ],
    "previousSymbols": [
      "CRD",
      "RP3",
      "RP15",
      "COD1"
    ],
    "ensemblId": "ENSG00000156313",
    "entrezId": 6103,
    "omim": [
      "312610"
    ],
    "uniprot": [
      "Q92834"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 38284408,
      "end": 38327509,
      "strand": "-",
      "ensemblTranscript": "ENST00000645032.1",
      "refseqTranscript": "NM_001034853.2",
      "ensemblProtein": "ENSP00000495537.1",
      "refseqProtein": "NP_001030025.1",
      "exons": [
        {
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          "start": 38323399,
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        {
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          "end": 38327509
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      ],
      "cds": {
        "start": 38285540,
        "end": 38327367
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 38128416,
      "end": 38186817,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 37805959,
      "end": 38805958,
      "genes": [
        {
          "symbol": "",
          "ensemblId": "ENSG00000250349",
          "biotype": "protein_coding",
          "start": 37349330,
          "end": 38687674,
          "strand": "+"
        },
        {
          "symbol": "CYBB",
          "ensemblId": "ENSG00000165168",
          "biotype": "protein_coding",
          "start": 37780018,
          "end": 37816994,
          "strand": "+",
          "slug": "cybb"
        },
        {
          "symbol": "DYNLT3",
          "ensemblId": "ENSG00000165169",
          "biotype": "protein_coding",
          "start": 37836611,
          "end": 37847593,
          "strand": "-",
          "slug": "dynlt3"
        },
        {
          "symbol": "H2AP",
          "ensemblId": "ENSG00000187516",
          "biotype": "protein_coding",
          "start": 37990779,
          "end": 37991314,
          "strand": "+",
          "slug": "h2ap"
        },
        {
          "symbol": "H2AL3",
          "ensemblId": "ENSG00000229674",
          "biotype": "protein_coding",
          "start": 37994272,
          "end": 37994904,
          "strand": "+",
          "slug": "h2al3"
        },
        {
          "symbol": "SYTL5",
          "ensemblId": "ENSG00000147041",
          "biotype": "protein_coding",
          "start": 38006515,
          "end": 38128964,
          "strand": "+",
          "slug": "sytl5"
        },
        {
          "symbol": "SRPX",
          "ensemblId": "ENSG00000101955",
          "biotype": "protein_coding",
          "start": 38149336,
          "end": 38220941,
          "strand": "-",
          "slug": "srpx"
        },
        {
          "symbol": "OTC",
          "ensemblId": "ENSG00000036473",
          "biotype": "protein_coding",
          "start": 38327598,
          "end": 38424632,
          "strand": "+",
          "slug": "otc"
        },
        {
          "symbol": "TSPAN7",
          "ensemblId": "ENSG00000156298",
          "biotype": "protein_coding",
          "start": 38561498,
          "end": 38689249,
          "strand": "+",
          "slug": "tspan7"
        },
        {
          "symbol": "MID1IP1",
          "ensemblId": "ENSG00000165175",
          "biotype": "protein_coding",
          "start": 38801417,
          "end": 38806555,
          "strand": "+",
          "slug": "mid1ip1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "retinitis-pigmentosa",
        "name": "Retinita pigmentară",
        "diseases": [
          {
            "mondoId": "MONDO:0100437",
            "name": "Retinopatie legată de RPGR",
            "genes": 1,
            "inheritance": "x-linked-recessive",
            "description": "O distrofie retiniană cauzată de modificări ale genei RPGR, cea mai frecventă cauză a retinitei pigmentare legate de cromozomul X.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019200",
            "name": "Retinita pigmentară",
            "genes": 77,
            "inheritance": null,
            "description": "Un grup de distrofii retiniene ereditare cu pierdere progresivă a bastonaşelor, apoi a conurilor fotoreceptoare, cauzând cecitate nocturnă și pierderea treptată a vederii periferice.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/retinitis-pigmentosa"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "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": "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-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-inferior-vena-cava-morphology",
        "name": "Abnormal inferior vena cava morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-inferior-vena-cava-morphology"
      },
      {
        "slug": "abnormal-atrial-arrangement",
        "name": "Abnormal location of heart atrium",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-atrial-arrangement"
      },
      {
        "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": "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-sperm-motility",
        "name": "Abnormal sperm motility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-sperm-motility"
      },
      {
        "slug": "abnormal-sputum",
        "name": "Abnormal sputum",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-sputum"
      },
      {
        "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": "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-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      },
      {
        "slug": "abnormal-heart-morphology",
        "name": "Abnormality of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-heart-morphology"
      },
      {
        "slug": "abnormality-of-the-skeletal-system",
        "name": "Abnormality of the skeletal system",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system"
      },
      {
        "slug": "absent-foveal-reflex",
        "name": "Absent foveal reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-foveal-reflex"
      },
      {
        "slug": "asplenia",
        "name": "Absent spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/asplenia"
      },
      {
        "slug": "situs-inversus-totalis",
        "name": "All organs on wrong side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/situs-inversus-totalis"
      },
      {
        "slug": "anomalous-pulmonary-venous-return",
        "name": "Anomalous pulmonary venous return",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/anomalous-pulmonary-venous-return"
      },
      {
        "slug": "atrial-situs-ambiguous",
        "name": "Atrial situs ambiguous",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/atrial-situs-ambiguous"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "nasal-congestion",
        "name": "Blockage of nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nasal-congestion"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "chronic-otitis-media",
        "name": "Chronic infections of the middle ear",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-otitis-media"
      },
      {
        "slug": "chronic-rhinitis",
        "name": "Chronic rhinitis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-rhinitis"
      },
      {
        "slug": "chronic-sinusitis",
        "name": "Chronic sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-sinusitis"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "clubbing",
        "name": "Clubbing of fingers and toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clubbing"
      },
      {
        "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": "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": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "double-outlet-right-ventricle",
        "name": "Double outlet right ventricle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/double-outlet-right-ventricle"
      },
      {
        "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": "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"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "female-infertility",
        "name": "Female infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/female-infertility"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "high-frequency-hearing-impairment",
        "name": "Hearing loss, high-frequency",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/high-frequency-hearing-impairment"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "hypoautofluorescent-macular-lesion",
        "name": "Hypoautofluorescent macular lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypoautofluorescent-macular-lesion"
      },
      {
        "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": "intestinal-malrotation",
        "name": "Intestinal malrotation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/intestinal-malrotation"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "slug": "lithoptysis",
        "name": "Lithoptysis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lithoptysis"
      },
      {
        "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-degeneration",
        "name": "Macular degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/macular-degeneration"
      },
      {
        "slug": "male-infertility",
        "name": "Male infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/male-infertility"
      },
      {
        "slug": "metamorphopsia",
        "name": "Metamorphopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/metamorphopsia"
      },
      {
        "slug": "otitis-media",
        "name": "Middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/otitis-media"
      },
      {
        "slug": "morphological-central-nervous-system-abnormality",
        "name": "Morphological central nervous system abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/morphological-central-nervous-system-abnormality"
      },
      {
        "slug": "polysplenia",
        "name": "Multiple small spleens",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/polysplenia"
      },
      {
        "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": "nasal-polyposis",
        "name": "Nasal polyposis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nasal-polyposis"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "airway-obstruction",
        "name": "Obstructive lung disease",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/airway-obstruction"
      },
      {
        "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": "atelectasis",
        "name": "Partial or complete collapse of part or entire lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atelectasis"
      },
      {
        "slug": "pendular-nystagmus",
        "name": "Pendular nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pendular-nystagmus"
      },
      {
        "slug": "peribronchovascular-interstitial-thickening",
        "name": "Peribronchovascular interstitial thickening",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peribronchovascular-interstitial-thickening"
      },
      {
        "slug": "perifoveal-hypoautofluorescence",
        "name": "Perifoveal hypoautofluorescence",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/perifoveal-hypoautofluorescence"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "persistent-left-superior-vena-cava",
        "name": "Persistent left superior vena cava",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/persistent-left-superior-vena-cava"
      },
      {
        "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-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"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-night-blindness"
      },
      {
        "slug": "pulmonary-situs-ambiguus",
        "name": "Pulmonary situs ambiguus",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-situs-ambiguus"
      },
      {
        "slug": "recurrent-bronchitis",
        "name": "Recurrent bronchitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-bronchitis"
      },
      {
        "slug": "recurrent-haemophilus-influenzae-infection",
        "name": "Recurrent Haemophilus influenzae infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-haemophilus-influenzae-infection"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-mycobacterial-infections",
        "name": "Recurrent mycobacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-mycobacterial-infections"
      },
      {
        "slug": "recurrent-sinopulmonary-infections",
        "name": "Recurrent sinus and lung infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-sinopulmonary-infections"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "respiratory-tract-infection",
        "name": "Respiratory tract infection",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-tract-infection"
      },
      {
        "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-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": "ring-scotoma",
        "name": "Ring scotoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ring-scotoma"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "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-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "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": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "monochromacy",
        "name": "Total colorblindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/monochromacy"
      },
      {
        "slug": "transposition-of-the-great-arteries",
        "name": "Transposition of the great arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/transposition-of-the-great-arteries"
      },
      {
        "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": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "productive-cough",
        "name": "Wet cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/productive-cough"
      },
      {
        "slug": "wheezing",
        "name": "Wheezing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wheezing"
      }
    ],
    "related": [
      {
        "slug": "abca4",
        "symbol": "ABCA4",
        "name": "ATP binding cassette subfamily A member 4",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/abca4"
      },
      {
        "slug": "agbl5",
        "symbol": "AGBL5",
        "name": "AGBL carboxypeptidase 5",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/agbl5"
      },
      {
        "slug": "ahr",
        "symbol": "AHR",
        "name": "aryl hydrocarbon receptor",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ahr"
      },
      {
        "slug": "arhgef18",
        "symbol": "ARHGEF18",
        "name": "Rho/Rac guanine nucleotide exchange factor 18",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arhgef18"
      },
      {
        "slug": "arl2bp",
        "symbol": "ARL2BP",
        "name": "ARF like GTPase 2 binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arl2bp"
      },
      {
        "slug": "arl3",
        "symbol": "ARL3",
        "name": "ARF like GTPase 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arl3"
      },
      {
        "slug": "arl6",
        "symbol": "ARL6",
        "name": "ARF like GTPase 6",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arl6"
      },
      {
        "slug": "bbs2",
        "symbol": "BBS2",
        "name": "Bardet-Biedl syndrome 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/bbs2"
      },
      {
        "slug": "best1",
        "symbol": "BEST1",
        "name": "bestrophin 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/best1"
      },
      {
        "slug": "ca4",
        "symbol": "CA4",
        "name": "carbonic anhydrase 4",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ca4"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/cc2d2a"
      },
      {
        "slug": "cdhr1",
        "symbol": "CDHR1",
        "name": "cadherin related family member 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/cdhr1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 184,
    "url": "https://dantelabs.com/genes/rpgr/variants",
    "items": [
      {
        "slug": "a308p",
        "name": "A308P",
        "commonName": null,
        "symbol": "RPGR",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.922G>C",
        "position": 38304647,
        "grch37Position": 38163900,
        "part": {
          "kind": "exon",
          "number": 8
        },
        "url": "https://dantelabs.com/genes/rpgr/variants/a308p"
      },
      {
        "slug": "a365cfs12",
        "name": "A365Cfs*12",
        "commonName": null,
        "symbol": "RPGR",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.1092dup",
        "position": 38299108,
        "grch37Position": 38158361,
        "part": {
          "kind": "exon",
          "number": 10
        },
        "url": "https://dantelabs.com/genes/rpgr/variants/a365cfs12"
      },
      {
        "slug": "a781rfs34",
        "name": "A781Rfs*34",
        "commonName": null,
        "symbol": "RPGR",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.2340del",
        "position": 38286658,
        "grch37Position": 38145911,
        "part": {
          "kind": "exon",
          "number": 15
        },
        "url": "https://dantelabs.com/genes/rpgr/variants/a781rfs34"
      },
      {
        "slug": "c-28plus1g-a",
        "name": "c.28+1G>A",
        "commonName": null,
        "symbol": "RPGR",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 38327339,
        "grch37Position": 38186592,
        "part": {
          "kind": "intron",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rpgr/variants/c-28plus1g-a"
      },
      {
        "slug": "c-28plus1g-c",
        "name": "c.28+1G>C",
        "commonName": null,
        "symbol": "RPGR",
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        "stars": 3,
        "hgvsC": null,
        "position": 38327339,
        "grch37Position": 38186592,
        "part": {
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          "number": 1
        },
        "url": "https://dantelabs.com/genes/rpgr/variants/c-28plus1g-c"
      },
      {
        "slug": "c-28plus2t-c",
        "name": "c.28+2T>C",
        "commonName": null,
        "symbol": "RPGR",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 38327338,
        "grch37Position": 38186591,
        "part": {
          "kind": "intron",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rpgr/variants/c-28plus2t-c"
      },
      {
        "slug": "c-28plus2t-g",
        "name": "c.28+2T>G",
        "commonName": null,
        "symbol": "RPGR",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 38327338,
        "grch37Position": 38186591,
        "part": {
          "kind": "intron",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rpgr/variants/c-28plus2t-g"
      },
      {
        "slug": "c-29-2a-g",
        "name": "c.29-2A>G",
        "commonName": null,
        "symbol": "RPGR",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 38323526,
        "grch37Position": 38182779,
        "part": {
          "kind": "intron",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rpgr/variants/c-29-2a-g"
      },
      {
        "slug": "c-154plus1g-a",
        "name": "c.154+1G>A",
        "commonName": null,
        "symbol": "RPGR",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 38323398,
        "grch37Position": 38182651,
        "part": {
          "kind": "intron",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/rpgr/variants/c-154plus1g-a"
      },
      {
        "slug": "c-154plus3to154plus6del",
        "name": "c.154+3_154+6del",
        "commonName": null,
        "symbol": "RPGR",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 38323392,
        "grch37Position": 38182645,
        "part": {
          "kind": "intron",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/rpgr/variants/c-154plus3to154plus6del"
      },
      {
        "slug": "c-155-1g-a",
        "name": "c.155-1G>A",
        "commonName": null,
        "symbol": "RPGR",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 38322946,
        "grch37Position": 38182199,
        "part": {
          "kind": "intron",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/rpgr/variants/c-155-1g-a"
      },
      {
        "slug": "c-155-2a-g",
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