{
  "url": "https://dantelabs.com/cs/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": "Hereditary Congenital & Juvenile Cataract",
        "diseases": [
          {
            "mondoId": "MONDO:0011060",
            "name": "Early-Onset Non-Syndromic Cataract",
            "genes": 22,
            "inheritance": null,
            "description": "Cataract that appears at birth or early in life without other features, caused by changes in lens genes such as the crystallins (CRYAA, CRYBB2, CRYGD and others), GJA3, GJA8 and MIP.",
            "management": "Early detection and surgery in children help prevent permanent vision loss from amblyopia, and family members can be offered eye checks.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/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/cs/genes/bfsp1"
      },
      {
        "slug": "chmp4b",
        "symbol": "CHMP4B",
        "name": "charged multivesicular body protein 4B",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/chmp4b"
      },
      {
        "slug": "cryab",
        "symbol": "CRYAB",
        "name": "crystallin alpha B",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cryab"
      },
      {
        "slug": "cryba1",
        "symbol": "CRYBA1",
        "name": "crystallin beta A1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cryba1"
      },
      {
        "slug": "cryba2",
        "symbol": "CRYBA2",
        "name": "crystallin beta A2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cryba2"
      },
      {
        "slug": "cryba4",
        "symbol": "CRYBA4",
        "name": "crystallin beta A4",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cryba4"
      },
      {
        "slug": "crybb1",
        "symbol": "CRYBB1",
        "name": "crystallin beta B1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/crybb1"
      },
      {
        "slug": "crygs",
        "symbol": "CRYGS",
        "name": "crystallin gamma S",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/crygs"
      },
      {
        "slug": "epha2",
        "symbol": "EPHA2",
        "name": "EPH receptor A2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/epha2"
      },
      {
        "slug": "gcnt2",
        "symbol": "GCNT2",
        "name": "glucosaminyl (N-acetyl) transferase 2 (I blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/gcnt2"
      },
      {
        "slug": "gja3",
        "symbol": "GJA3",
        "name": "gap junction protein alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/gja3"
      },
      {
        "slug": "hsf4",
        "symbol": "HSF4",
        "name": "heat shock transcription factor 4",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/hsf4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}