{
  "url": "https://dantelabs.com/hu/genes/gpr143",
  "gene": {
    "slug": "gpr143",
    "symbol": "GPR143",
    "name": "G protein-coupled receptor 143",
    "hgnc": "HGNC:20145",
    "summary": null,
    "location": "Xp22.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "OA1"
    ],
    "ensemblId": "ENSG00000101850",
    "entrezId": 4935,
    "omim": [
      "300808"
    ],
    "uniprot": [
      "P51810"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 9725346,
      "end": 9765847,
      "strand": "-",
      "ensemblTranscript": "ENST00000467482.6",
      "refseqTranscript": "NM_000273.3",
      "ensemblProtein": "ENSP00000417161.1",
      "refseqProtein": "NP_000264.2",
      "exons": [
        {
          "start": 9725346,
          "end": 9725840
        },
        {
          "start": 9739485,
          "end": 9739719
        },
        {
          "start": 9741338,
          "end": 9741455
        },
        {
          "start": 9743565,
          "end": 9743673
        },
        {
          "start": 9746044,
          "end": 9746153
        },
        {
          "start": 9748574,
          "end": 9748666
        },
        {
          "start": 9759332,
          "end": 9759426
        },
        {
          "start": 9760717,
          "end": 9760826
        },
        {
          "start": 9765568,
          "end": 9765847
        }
      ],
      "cds": {
        "start": 9725746,
        "end": 9765817
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 9693386,
      "end": 9754337,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 9245597,
      "end": 10245596,
      "genes": [
        {
          "symbol": "FAM9B",
          "ensemblId": "ENSG00000177138",
          "biotype": "protein_coding",
          "start": 9024232,
          "end": 9295682,
          "strand": "-",
          "slug": "fam9b"
        },
        {
          "symbol": "TBL1X",
          "ensemblId": "ENSG00000101849",
          "biotype": "protein_coding",
          "start": 9463258,
          "end": 9741723,
          "strand": "+",
          "slug": "tbl1x"
        },
        {
          "symbol": "SHROOM2",
          "ensemblId": "ENSG00000146950",
          "biotype": "protein_coding",
          "start": 9786378,
          "end": 9949443,
          "strand": "+",
          "slug": "shroom2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000310579",
          "biotype": "protein_coding",
          "start": 9786429,
          "end": 9968352,
          "strand": "+"
        },
        {
          "symbol": "CLDN34",
          "ensemblId": "ENSG00000234469",
          "biotype": "protein_coding",
          "start": 9961424,
          "end": 9968352,
          "strand": "+",
          "slug": "cldn34"
        },
        {
          "symbol": "WWC3",
          "ensemblId": "ENSG00000047644",
          "biotype": "protein_coding",
          "start": 10015254,
          "end": 10144592,
          "strand": "+",
          "slug": "wwc3"
        },
        {
          "symbol": "CLCN4",
          "ensemblId": "ENSG00000073464",
          "biotype": "protein_coding",
          "start": 10156938,
          "end": 10237663,
          "strand": "+",
          "slug": "clcn4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "gpr143-related-ocular-albinism-foveal-hypoplasia",
        "name": "GPR143-Related Foveal Hypoplasia (Ocular Albinism Type 1)",
        "diseases": [
          {
            "mondoId": "MONDO:0700230",
            "name": "GPR143-Related Foveal Hypoplasia",
            "genes": 1,
            "inheritance": "x-linked-recessive",
            "description": "Caused by changes in GPR143, which makes a receptor in pigment cells of the eye that controls pigment granule growth. Because the gene is on the X chromosome, males with one changed copy are affected, while females are usually carriers.",
            "management": "Regular eye care with glasses, low-vision aids and educational support; sunglasses can help with light sensitivity. Genetic counselling explains X-linked inheritance: sons of carrier women have a 50% chance of being affected, and carrier testing is available for female relatives.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/gpr143-related-ocular-albinism-foveal-hypoplasia"
      },
      {
        "slug": "oculocutaneous-albinism",
        "name": "Oculocutaneous Albinism",
        "diseases": [
          {
            "mondoId": "MONDO:0017304",
            "name": "Ocular Albinism",
            "genes": 2,
            "inheritance": null,
            "description": "Albinism mainly affecting the eyes, most often X-linked ocular albinism caused by changes in GPR143, with reduced vision, nystagmus and iris translucency but little effect on skin and hair.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/oculocutaneous-albinism"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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-pupil-morphology",
        "name": "Abnormality of the pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pupil-morphology"
      },
      {
        "slug": "ocular-albinism",
        "name": "Absent pigmentation in the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ocular-albinism"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "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": "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": "freckling",
        "name": "Freckling",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/freckling"
      },
      {
        "slug": "fundus-hypopigmentation",
        "name": "Fundus hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/fundus-hypopigmentation"
      },
      {
        "slug": "giant-melanosomes-in-melanocytes",
        "name": "Giant melanosomes in melanocytes",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/giant-melanosomes-in-melanocytes"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "hypoplasia-of-the-fovea",
        "name": "Hypoplasia of the fovea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "iris-hypopigmentation",
        "name": "Light eye color",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/iris-hypopigmentation"
      },
      {
        "slug": "nystagmus-induced-head-nodding",
        "name": "Nystagmus-induced head nodding",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus-induced-head-nodding"
      },
      {
        "slug": "retinal-pigment-epithelial-mottling",
        "name": "Retinal pigment epithelial mottling",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-mottling"
      },
      {
        "slug": "neoplasm-of-the-skin",
        "name": "Skin cancer",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-skin"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "tyr",
        "symbol": "TYR",
        "name": "tyrosinase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/tyr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}