{
  "url": "https://dantelabs.com/genes/prph2",
  "gene": {
    "slug": "prph2",
    "symbol": "PRPH2",
    "name": "peripherin 2",
    "hgnc": "HGNC:9942",
    "summary": null,
    "location": "6p21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "TSPAN22",
      "rd2",
      "CACD2"
    ],
    "previousSymbols": [
      "RP7",
      "RDS"
    ],
    "ensemblId": "ENSG00000112619",
    "entrezId": 5961,
    "omim": [
      "179605"
    ],
    "uniprot": [
      "P23942"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 42696598,
      "end": 42722597,
      "strand": "-",
      "ensemblTranscript": "ENST00000230381.7",
      "refseqTranscript": "NM_000322.5",
      "ensemblProtein": "ENSP00000230381.5",
      "refseqProtein": "NP_000313.2",
      "exons": [
        {
          "start": 42696598,
          "end": 42698507
        },
        {
          "start": 42704365,
          "end": 42704611
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        {
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        }
      ],
      "cds": {
        "start": 42698295,
        "end": 42722334
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 42664340,
      "end": 42690312,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 42209598,
      "end": 43209597,
      "genes": [
        {
          "symbol": "MRPS10",
          "ensemblId": "ENSG00000048544",
          "biotype": "protein_coding",
          "start": 42205717,
          "end": 42217881,
          "strand": "-",
          "slug": "mrps10"
        },
        {
          "symbol": "TRERF1",
          "ensemblId": "ENSG00000124496",
          "biotype": "protein_coding",
          "start": 42224931,
          "end": 42452225,
          "strand": "-",
          "slug": "trerf1"
        },
        {
          "symbol": "UBR2",
          "ensemblId": "ENSG00000024048",
          "biotype": "protein_coding",
          "start": 42563969,
          "end": 42693505,
          "strand": "+",
          "slug": "ubr2"
        },
        {
          "symbol": "TBCC",
          "ensemblId": "ENSG00000124659",
          "biotype": "protein_coding",
          "start": 42744498,
          "end": 42746103,
          "strand": "-",
          "slug": "tbcc"
        },
        {
          "symbol": "BICRAL",
          "ensemblId": "ENSG00000112624",
          "biotype": "protein_coding",
          "start": 42781931,
          "end": 42868560,
          "strand": "+",
          "slug": "bicral"
        },
        {
          "symbol": "RPL7L1",
          "ensemblId": "ENSG00000146223",
          "biotype": "protein_coding",
          "start": 42879602,
          "end": 42889925,
          "strand": "+",
          "slug": "rpl7l1"
        },
        {
          "symbol": "PEX39",
          "ensemblId": "ENSG00000221821",
          "biotype": "protein_coding",
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          "end": 42890821,
          "strand": "-",
          "slug": "pex39"
        },
        {
          "symbol": "PTCRA",
          "ensemblId": "ENSG00000171611",
          "biotype": "protein_coding",
          "start": 42915989,
          "end": 42925845,
          "strand": "+",
          "slug": "ptcra"
        },
        {
          "symbol": "CNPY3",
          "ensemblId": "ENSG00000137161",
          "biotype": "protein_coding",
          "start": 42928975,
          "end": 42940217,
          "strand": "+",
          "slug": "cnpy3"
        },
        {
          "symbol": "PEX6",
          "ensemblId": "ENSG00000124587",
          "biotype": "protein_coding",
          "start": 42959717,
          "end": 42979249,
          "strand": "-",
          "slug": "pex6"
        },
        {
          "symbol": "GNMT",
          "ensemblId": "ENSG00000124713",
          "biotype": "protein_coding",
          "start": 42960268,
          "end": 42970699,
          "strand": "+",
          "slug": "gnmt"
        },
        {
          "symbol": "PPP2R5D",
          "ensemblId": "ENSG00000112640",
          "biotype": "protein_coding",
          "start": 42984533,
          "end": 43012346,
          "strand": "+",
          "slug": "ppp2r5d"
        },
        {
          "symbol": "MEA1",
          "ensemblId": "ENSG00000124733",
          "biotype": "protein_coding",
          "start": 43011143,
          "end": 43016868,
          "strand": "-",
          "slug": "mea1"
        },
        {
          "symbol": "KLHDC3",
          "ensemblId": "ENSG00000124702",
          "biotype": "protein_coding",
          "start": 43014103,
          "end": 43021314,
          "strand": "+",
          "slug": "klhdc3"
        },
        {
          "symbol": "RRP36",
          "ensemblId": "ENSG00000124541",
          "biotype": "protein_coding",
          "start": 43021588,
          "end": 43034156,
          "strand": "+",
          "slug": "rrp36"
        },
        {
          "symbol": "CUL7",
          "ensemblId": "ENSG00000044090",
          "biotype": "protein_coding",
          "start": 43037617,
          "end": 43053943,
          "strand": "-",
          "slug": "cul7"
        },
        {
          "symbol": "KLC4",
          "ensemblId": "ENSG00000137171",
          "biotype": "protein_coding",
          "start": 43040777,
          "end": 43075099,
          "strand": "+",
          "slug": "klc4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288564",
          "biotype": "protein_coding",
          "start": 43051066,
          "end": 43058185,
          "strand": "-"
        },
        {
          "symbol": "MRPL2",
          "ensemblId": "ENSG00000112651",
          "biotype": "protein_coding",
          "start": 43054029,
          "end": 43059464,
          "strand": "-",
          "slug": "mrpl2"
        },
        {
          "symbol": "PTK7",
          "ensemblId": "ENSG00000112655",
          "biotype": "protein_coding",
          "start": 43076256,
          "end": 43161719,
          "strand": "+",
          "slug": "ptk7"
        },
        {
          "symbol": "SRF",
          "ensemblId": "ENSG00000112658",
          "biotype": "protein_coding",
          "start": 43170910,
          "end": 43181506,
          "strand": "+",
          "slug": "srf"
        },
        {
          "symbol": "CUL9",
          "ensemblId": "ENSG00000112659",
          "biotype": "protein_coding",
          "start": 43182166,
          "end": 43224587,
          "strand": "+",
          "slug": "cul9"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-stationary-night-blindness",
        "name": "Congenital Stationary Night Blindness",
        "diseases": [
          {
            "mondoId": "MONDO:0007639",
            "name": "Fundus Albipunctatus",
            "genes": 3,
            "inheritance": "autosomal-recessive",
            "description": "A form of stationary night blindness, usually caused by changes in both copies of RDH5, with many small white dots in the retina and slow adaptation to the dark.",
            "management": "Knowing the cause helps avoid misdiagnosis as a progressive retinal dystrophy.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/congenital-stationary-night-blindness"
      },
      {
        "slug": "hereditary-macular-dystrophies",
        "name": "Hereditary Macular Dystrophies",
        "diseases": [
          {
            "mondoId": "MONDO:1040055",
            "name": "PRPH2-Related Retinopathy",
            "genes": 4,
            "inheritance": "autosomal-dominant",
            "description": "A retinal condition caused by changes in PRPH2, which can cause pattern dystrophy, adult vitelliform dystrophy or wider retinal degeneration, even within one family.",
            "management": "Regular eye examinations help detect complications and support planning.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/hereditary-macular-dystrophies"
      },
      {
        "slug": "leber-congenital-amaurosis",
        "name": "Leber Congenital Amaurosis & RPE65-Related Retinopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0018998",
            "name": "Leber Congenital Amaurosis",
            "genes": 21,
            "inheritance": "autosomal-recessive",
            "description": "A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.",
            "management": "Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/leber-congenital-amaurosis"
      },
      {
        "slug": "retinitis-pigmentosa",
        "name": "Retinitis Pigmentosa",
        "diseases": [
          {
            "mondoId": "MONDO:0100444",
            "name": "RLBP1-Related Retinopathy",
            "genes": 3,
            "inheritance": "autosomal-recessive",
            "description": "A retinal dystrophy caused by changes in the RLBP1 gene.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019200",
            "name": "Retinitis Pigmentosa",
            "genes": 77,
            "inheritance": null,
            "description": "A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/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": "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-corneal-endothelium-morphology",
        "name": "Abnormal corneal endothelium morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-corneal-endothelium-morphology"
      },
      {
        "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-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-fundus-pigmentation",
        "name": "Abnormal fundus pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-fundus-pigmentation"
      },
      {
        "slug": "abnormal-light-and-dark-adapted-electroretinogram",
        "name": "Abnormal light- and dark-adapted electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-light-and-dark-adapted-electroretinogram"
      },
      {
        "slug": "abnormal-macular-morphology",
        "name": "Abnormal macular morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "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-optic-disc-morphology",
        "name": "Abnormal optic disc morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology"
      },
      {
        "slug": "abnormal-pupillary-light-reflex",
        "name": "Abnormal pupillary light reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "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-neuronal-migration",
        "name": "Abnormality of neuronal migration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration"
      },
      {
        "slug": "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-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-foveal-reflex"
      },
      {
        "slug": "absent-retinal-pigment-epithelium",
        "name": "Absent retinal pigment epithelium",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-retinal-pigment-epithelium"
      },
      {
        "slug": "adult-onset-night-blindness",
        "name": "Adult-onset night blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/adult-onset-night-blindness"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-cerebellar-vermis",
        "name": "Aplasia/Hypoplasia of the cerebellar vermis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellar-vermis"
      },
      {
        "slug": "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": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "postural-instability",
        "name": "Balance impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postural-instability"
      },
      {
        "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": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "blurred-vision",
        "name": "Blurred vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blurred-vision"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "choriocapillaris-atrophy",
        "name": "Choriocapillaris atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choriocapillaris-atrophy"
      },
      {
        "slug": "chorioretinal-atrophy",
        "name": "Chorioretinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "chorioretinal-scalloped-atrophy",
        "name": "Chorioretinal scalloped atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chorioretinal-scalloped-atrophy"
      },
      {
        "slug": "choroidal-neovascularization",
        "name": "Choroidal neovascularization",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/choroidal-neovascularization"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyschromatopsia"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "congenital-sensorineural-hearing-impairment",
        "name": "Congenital sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-sensorineural-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": "dark-choroid",
        "name": "Dark choroid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dark-choroid"
      },
      {
        "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-early-childhood-social-milestone-development",
        "name": "Delayed social development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-early-childhood-social-milestone-development"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "drusen",
        "name": "Drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/drusen"
      },
      {
        "slug": "encephalocele",
        "name": "Encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/encephalocele"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "eye-poking",
        "name": "Eye poking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eye-poking"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "foveal-photoreceptor-outer-segment-loss-on-macular-oct",
        "name": "Foveal photoreceptor outer segment loss on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/foveal-photoreceptor-outer-segment-loss-on-macular-oct"
      },
      {
        "slug": "full-thickness-macular-hole",
        "name": "Full-thickness macular hole",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/full-thickness-macular-hole"
      },
      {
        "slug": "fundus-albipunctatus",
        "name": "Fundus albipunctatus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/fundus-albipunctatus"
      },
      {
        "slug": "fundus-hypopigmentation",
        "name": "Fundus hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fundus-hypopigmentation"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "granular-macular-appearance",
        "name": "Granular macular appearance",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/granular-macular-appearance"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hyperautofluorescent-macular-lesion",
        "name": "Hyperautofluorescent macular lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperautofluorescent-macular-lesion"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "lenticonus",
        "name": "Lenticonus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lenticonus"
      },
      {
        "slug": "iris-hypopigmentation",
        "name": "Light eye color",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-hypopigmentation"
      },
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "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": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "macular-atrophy",
        "name": "Macular atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macular-atrophy"
      },
      {
        "slug": "macular-degeneration",
        "name": "Macular degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macular-degeneration"
      },
      {
        "slug": "macular-dystrophy",
        "name": "Macular dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/macular-dystrophy"
      },
      {
        "slug": "macular-pseudocoloboma",
        "name": "Macular pseudocoloboma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macular-pseudocoloboma"
      },
      {
        "slug": "severely-reduced-visual-acuity",
        "name": "Marked vision impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity"
      },
      {
        "slug": "metamorphopsia",
        "name": "Metamorphopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metamorphopsia"
      },
      {
        "slug": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "attenuation-of-retinal-blood-vessels",
        "name": "Narrowing of blood vessels in back of eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "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": "exotropia",
        "name": "Outward facing eye ball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exotropia"
      },
      {
        "slug": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "slug": "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": "visual-field-defect",
        "name": "Partial loss of field of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-field-defect"
      },
      {
        "slug": "pattern-dystrophy-of-the-retina",
        "name": "Pattern dystrophy of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pattern-dystrophy-of-the-retina"
      },
      {
        "slug": "perifoveal-ring-of-hyperautofluorescence",
        "name": "Perifoveal ring of hyperautofluorescence",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/perifoveal-ring-of-hyperautofluorescence"
      },
      {
        "slug": "photopsia",
        "name": "Photopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "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": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "posterior-subcapsular-cataract",
        "name": "Posterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract"
      },
      {
        "slug": "posterior-synechiae-of-the-anterior-chamber",
        "name": "Posterior synechiae of the anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/posterior-synechiae-of-the-anterior-chamber"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-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": "progressive-visual-field-defects",
        "name": "Progressive visual field defects",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-visual-field-defects"
      },
      {
        "slug": "reticular-retinal-dystrophy",
        "name": "Reticular retinal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/reticular-retinal-dystrophy"
      },
      {
        "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-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "retinal-flecks",
        "name": "Retinal flecks",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-flecks"
      },
      {
        "slug": "retinal-nonattachment",
        "name": "Retinal nonattachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-nonattachment"
      },
      {
        "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": "rhegmatogenous-retinal-detachment",
        "name": "Rhegmatogenous retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/rhegmatogenous-retinal-detachment"
      },
      {
        "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": "slow-decrease-in-visual-acuity",
        "name": "Slow decrease in sharpness of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slow-decrease-in-visual-acuity"
      },
      {
        "slug": "slow-pupillary-light-response",
        "name": "Slow pupillary light response",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slow-pupillary-light-response"
      },
      {
        "slug": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina"
      },
      {
        "slug": "undetectable-electroretinogram",
        "name": "Undetectable electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/undetectable-electroretinogram"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "vitelliform-macular-lesion",
        "name": "Vitelliform macular lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vitelliform-macular-lesion"
      },
      {
        "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"
      },
      {
        "slug": "yellow-white-retinal-lesion",
        "name": "Yellow/white retinal lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/yellow-white-retinal-lesion"
      }
    ],
    "related": [
      {
        "slug": "rdh5",
        "symbol": "RDH5",
        "name": "retinol dehydrogenase 5",
        "shared": 3,
        "url": "https://dantelabs.com/genes/rdh5"
      },
      {
        "slug": "rlbp1",
        "symbol": "RLBP1",
        "name": "retinaldehyde binding protein 1",
        "shared": 3,
        "url": "https://dantelabs.com/genes/rlbp1"
      },
      {
        "slug": "rom1",
        "symbol": "ROM1",
        "name": "retinal outer segment membrane protein 1",
        "shared": 3,
        "url": "https://dantelabs.com/genes/rom1"
      },
      {
        "slug": "crb1",
        "symbol": "CRB1",
        "name": "crumbs cell polarity complex component 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/crb1"
      },
      {
        "slug": "crx",
        "symbol": "CRX",
        "name": "cone-rod homeobox",
        "shared": 2,
        "url": "https://dantelabs.com/genes/crx"
      },
      {
        "slug": "impdh1",
        "symbol": "IMPDH1",
        "name": "inosine monophosphate dehydrogenase 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/impdh1"
      },
      {
        "slug": "rdh12",
        "symbol": "RDH12",
        "name": "retinol dehydrogenase 12",
        "shared": 2,
        "url": "https://dantelabs.com/genes/rdh12"
      },
      {
        "slug": "rpe65",
        "symbol": "RPE65",
        "name": "retinoid isomerohydrolase RPE65",
        "shared": 2,
        "url": "https://dantelabs.com/genes/rpe65"
      },
      {
        "slug": "spata7",
        "symbol": "SPATA7",
        "name": "spermatogenesis associated 7",
        "shared": 2,
        "url": "https://dantelabs.com/genes/spata7"
      },
      {
        "slug": "tulp1",
        "symbol": "TULP1",
        "name": "TUB like protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/tulp1"
      },
      {
        "slug": "abca4",
        "symbol": "ABCA4",
        "name": "ATP binding cassette subfamily A member 4",
        "shared": 1,
        "url": "https://dantelabs.com/genes/abca4"
      },
      {
        "slug": "agbl5",
        "symbol": "AGBL5",
        "name": "AGBL carboxypeptidase 5",
        "shared": 1,
        "url": "https://dantelabs.com/genes/agbl5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}