{
  "url": "https://dantelabs.com/pl/genes/crybb3",
  "gene": {
    "slug": "crybb3",
    "symbol": "CRYBB3",
    "name": "crystallin beta B3",
    "hgnc": "HGNC:2400",
    "summary": null,
    "location": "22q11.23",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "CRYB3"
    ],
    "ensemblId": "ENSG00000100053",
    "entrezId": 1417,
    "omim": [
      "123630"
    ],
    "uniprot": [
      "P26998"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "22",
      "start": 25199858,
      "end": 25207359,
      "strand": "+",
      "ensemblTranscript": "ENST00000215855.7",
      "refseqTranscript": "NM_004076.5",
      "ensemblProtein": "ENSP00000215855.2",
      "refseqProtein": "NP_004067.1",
      "exons": [
        {
          "start": 25199858,
          "end": 25199909
        },
        {
          "start": 25201377,
          "end": 25201471
        },
        {
          "start": 25202674,
          "end": 25202792
        },
        {
          "start": 25203763,
          "end": 25203895
        },
        {
          "start": 25205220,
          "end": 25205362
        },
        {
          "start": 25207047,
          "end": 25207359
        }
      ],
      "cds": {
        "start": 25201397,
        "end": 25207212
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
      "start": 25595817,
      "end": 25603330,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 24703609,
      "end": 25703608,
      "genes": [
        {
          "symbol": "PIWIL3",
          "ensemblId": "ENSG00000184571",
          "biotype": "protein_coding",
          "start": 24719034,
          "end": 24774720,
          "strand": "-",
          "slug": "piwil3"
        },
        {
          "symbol": "SGSM1",
          "ensemblId": "ENSG00000167037",
          "biotype": "protein_coding",
          "start": 24806067,
          "end": 24932150,
          "strand": "+",
          "slug": "sgsm1"
        },
        {
          "symbol": "LHFPL7",
          "ensemblId": "ENSG00000206069",
          "biotype": "protein_coding",
          "start": 24935098,
          "end": 24946695,
          "strand": "-",
          "slug": "lhfpl7"
        },
        {
          "symbol": "KIAA1671",
          "ensemblId": "ENSG00000197077",
          "biotype": "protein_coding",
          "start": 24952643,
          "end": 25197448,
          "strand": "+",
          "slug": "kiaa1671"
        },
        {
          "symbol": "CRYBB2",
          "ensemblId": "ENSG00000244752",
          "biotype": "protein_coding",
          "start": 25212564,
          "end": 25231870,
          "strand": "+",
          "slug": "crybb2"
        },
        {
          "symbol": "GRK3",
          "ensemblId": "ENSG00000100077",
          "biotype": "protein_coding",
          "start": 25564432,
          "end": 25729294,
          "strand": "+",
          "slug": "grk3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-congenital-and-juvenile-cataract",
        "name": "Dziedziczna wrodzona i młodzieńcza zaćma",
        "diseases": [
          {
            "mondoId": "MONDO:0011060",
            "name": "Niezespołowa zaćma o wczesnym początku",
            "genes": 22,
            "inheritance": null,
            "description": "Zaćma pojawiająca się od urodzenia lub we wczesnym okresie życia, bez innych objawów, spowodowana zmianami w genach soczewki, takich jak krystaliny (CRYAA, CRYBB2, CRYGD i inne), GJA3, GJA8 oraz MIP.",
            "management": "Wczesne wykrycie i leczenie chirurgiczne u dzieci pomagają zapobiec trwałej utracie wzroku spowodowanej niedowidzeniem, a członkom rodziny można zaproponować badania wzroku.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/hereditary-congenital-and-juvenile-cataract"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "nuclear-cataract",
        "name": "Yellowish cloudy center of lens",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nuclear-cataract"
      }
    ],
    "related": [
      {
        "slug": "bfsp1",
        "symbol": "BFSP1",
        "name": "beaded filament structural protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/bfsp1"
      },
      {
        "slug": "chmp4b",
        "symbol": "CHMP4B",
        "name": "charged multivesicular body protein 4B",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/chmp4b"
      },
      {
        "slug": "cryab",
        "symbol": "CRYAB",
        "name": "crystallin alpha B",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cryab"
      },
      {
        "slug": "cryba1",
        "symbol": "CRYBA1",
        "name": "crystallin beta A1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cryba1"
      },
      {
        "slug": "cryba2",
        "symbol": "CRYBA2",
        "name": "crystallin beta A2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cryba2"
      },
      {
        "slug": "cryba4",
        "symbol": "CRYBA4",
        "name": "crystallin beta A4",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cryba4"
      },
      {
        "slug": "crybb1",
        "symbol": "CRYBB1",
        "name": "crystallin beta B1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/crybb1"
      },
      {
        "slug": "crygs",
        "symbol": "CRYGS",
        "name": "crystallin gamma S",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/crygs"
      },
      {
        "slug": "epha2",
        "symbol": "EPHA2",
        "name": "EPH receptor A2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/epha2"
      },
      {
        "slug": "gcnt2",
        "symbol": "GCNT2",
        "name": "glucosaminyl (N-acetyl) transferase 2 (I blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/gcnt2"
      },
      {
        "slug": "gja3",
        "symbol": "GJA3",
        "name": "gap junction protein alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/gja3"
      },
      {
        "slug": "hsf4",
        "symbol": "HSF4",
        "name": "heat shock transcription factor 4",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/hsf4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}