{
  "url": "https://dantelabs.com/es/genes/cyp26b1",
  "gene": {
    "slug": "cyp26b1",
    "symbol": "CYP26B1",
    "name": "cytochrome P450 family 26 subfamily B member 1",
    "hgnc": "HGNC:20581",
    "summary": null,
    "location": "2p13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "P450RAI-2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000003137",
    "entrezId": 56603,
    "omim": [
      "605207"
    ],
    "uniprot": [
      "Q9NR63"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 72129238,
      "end": 72147862,
      "strand": "-",
      "ensemblTranscript": "ENST00000001146.7",
      "refseqTranscript": "NM_019885.4",
      "ensemblProtein": "ENSP00000001146.2",
      "refseqProtein": "NP_063938.1",
      "exons": [
        {
          "start": 72129238,
          "end": 72132619
        },
        {
          "start": 72133023,
          "end": 72133307
        },
        {
          "start": 72134761,
          "end": 72134916
        },
        {
          "start": 72135144,
          "end": 72135419
        },
        {
          "start": 72143989,
          "end": 72144213
        },
        {
          "start": 72147631,
          "end": 72147862
        }
      ],
      "cds": {
        "start": 72132227,
        "end": 72147834
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 72356367,
      "end": 72375167,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 71638550,
      "end": 72638549,
      "genes": [
        {
          "symbol": "DYSF",
          "ensemblId": "ENSG00000135636",
          "biotype": "protein_coding",
          "start": 71453495,
          "end": 71686763,
          "strand": "+",
          "slug": "dysf"
        },
        {
          "symbol": "EXOC6B",
          "ensemblId": "ENSG00000144036",
          "biotype": "protein_coding",
          "start": 72170079,
          "end": 72826055,
          "strand": "-",
          "slug": "exoc6b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "syndromic-craniosynostosis",
        "name": "Craneosinostosis sindrómica",
        "diseases": [
          {
            "mondoId": "MONDO:0015338",
            "name": "Craneosinostosis sindrómica",
            "genes": 23,
            "inheritance": null,
            "description": "Enfermedades que combinan el cierre prematuro de las suturas craneales con otras características, entre ellas los síndromes de Apert, Crouzon, Pfeiffer, Muenke y Saethre-Chotzen, causadas por genes como FGFR2, FGFR3, FGFR1, TWIST1, TCF12 y ERF.",
            "management": "El diagnóstico precoz permite realizar la cirugía a tiempo y hacer un seguimiento del crecimiento craneal, la visión y la audición; las formas más leves, como el síndrome de Muenke, pueden pasar desapercibidas en adultos, lo que es relevante para la planificación familiar.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/syndromic-craniosynostosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "occipital-encephalocele",
        "name": "Brain tissue sticks out through back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/occipital-encephalocele"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "humeroradial-synostosis",
        "name": "Fusion of upper and lower arm bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/humeroradial-synostosis"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "oligodactyly",
        "name": "Oligodactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/oligodactyly"
      }
    ],
    "related": [
      {
        "slug": "erf",
        "symbol": "ERF",
        "name": "ETS2 repressor factor",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/erf"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "name": "fibroblast growth factor receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/fgfr1"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "name": "fibroblast growth factor receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/fgfr2"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "name": "fibroblast growth factor receptor 3",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/fgfr3"
      },
      {
        "slug": "ift122",
        "symbol": "IFT122",
        "name": "intraflagellar transport 122",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/ift122"
      },
      {
        "slug": "ift43",
        "symbol": "IFT43",
        "name": "intraflagellar transport 43",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/ift43"
      },
      {
        "slug": "ift52",
        "symbol": "IFT52",
        "name": "intraflagellar transport 52",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/ift52"
      },
      {
        "slug": "il11ra",
        "symbol": "IL11RA",
        "name": "interleukin 11 receptor subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/il11ra"
      },
      {
        "slug": "kat6a",
        "symbol": "KAT6A",
        "name": "lysine acetyltransferase 6A",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/kat6a"
      },
      {
        "slug": "megf8",
        "symbol": "MEGF8",
        "name": "multiple EGF like domains 8",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/megf8"
      },
      {
        "slug": "msx2",
        "symbol": "MSX2",
        "name": "msh homeobox 2",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/msx2"
      },
      {
        "slug": "por",
        "symbol": "POR",
        "name": "cytochrome p450 oxidoreductase",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/por"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}