{
  "url": "https://dantelabs.com/fr/genes/usp45",
  "gene": {
    "slug": "usp45",
    "symbol": "USP45",
    "name": "ubiquitin specific peptidase 45",
    "hgnc": "HGNC:20080",
    "summary": null,
    "location": "6q16.2",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC14793"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000123552",
    "entrezId": 85015,
    "omim": [
      "618439"
    ],
    "uniprot": [
      "Q70EL2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 99432325,
      "end": 99515423,
      "strand": "-",
      "ensemblTranscript": "ENST00000500704.7",
      "refseqTranscript": "NM_001346022.3",
      "ensemblProtein": "ENSP00000424372.1",
      "refseqProtein": "NP_001332951.1",
      "exons": [
        {
          "start": 99432325,
          "end": 99435846
        },
        {
          "start": 99437246,
          "end": 99437399
        },
        {
          "start": 99439769,
          "end": 99439855
        },
        {
          "start": 99443565,
          "end": 99443662
        },
        {
          "start": 99445797,
          "end": 99446463
        },
        {
          "start": 99464604,
          "end": 99464747
        },
        {
          "start": 99465080,
          "end": 99465136
        },
        {
          "start": 99466672,
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        },
        {
          "start": 99468537,
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        },
        {
          "start": 99476143,
          "end": 99476230
        },
        {
          "start": 99482753,
          "end": 99482883
        },
        {
          "start": 99488200,
          "end": 99488295
        },
        {
          "start": 99488681,
          "end": 99488820
        },
        {
          "start": 99503765,
          "end": 99503865
        },
        {
          "start": 99507428,
          "end": 99507531
        },
        {
          "start": 99508610,
          "end": 99508782
        },
        {
          "start": 99510121,
          "end": 99510230
        },
        {
          "start": 99515392,
          "end": 99515423
        }
      ],
      "cds": {
        "start": 99435716,
        "end": 99510220
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 99880190,
      "end": 99969604,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 98973874,
      "end": 99973873,
      "genes": [
        {
          "symbol": "FAXC",
          "ensemblId": "ENSG00000146267",
          "biotype": "protein_coding",
          "start": 99271168,
          "end": 99350062,
          "strand": "-",
          "slug": "faxc"
        },
        {
          "symbol": "COQ3",
          "ensemblId": "ENSG00000132423",
          "biotype": "protein_coding",
          "start": 99369401,
          "end": 99394211,
          "strand": "-",
          "slug": "coq3"
        },
        {
          "symbol": "PNISR",
          "ensemblId": "ENSG00000132424",
          "biotype": "protein_coding",
          "start": 99397629,
          "end": 99425963,
          "strand": "-",
          "slug": "pnisr"
        },
        {
          "symbol": "CCNC",
          "ensemblId": "ENSG00000112237",
          "biotype": "protein_coding",
          "start": 99530630,
          "end": 99568825,
          "strand": "-",
          "slug": "ccnc"
        },
        {
          "symbol": "PRDM13",
          "ensemblId": "ENSG00000112238",
          "biotype": "protein_coding",
          "start": 99606774,
          "end": 99615578,
          "strand": "+",
          "slug": "prdm13"
        },
        {
          "symbol": "MCHR2",
          "ensemblId": "ENSG00000152034",
          "biotype": "protein_coding",
          "start": 99918501,
          "end": 99994247,
          "strand": "-",
          "slug": "mchr2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "leber-congenital-amaurosis",
        "name": "Amaurose congénitale de Leber et rétinopathie liée à RPE65",
        "diseases": [
          {
            "mondoId": "MONDO:0018998",
            "name": "Amaurose congénitale de Leber",
            "genes": 21,
            "inheritance": "autosomal-recessive",
            "description": "Un groupe de dystrophies rétiniennes héréditaires, causées par des variants de gènes tels que CEP290, GUCY2D, CRB1, RPE65 et AIPL1, qui entraînent une perte de vision sévère, un nystagmus et des réactions pupillaires altérées dès la petite enfance.",
            "management": "La confirmation du gène peut déterminer l'éligibilité à des traitements spécifiques à ce gène et à des essais cliniques, et guider le conseil génétique familial.",
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/leber-congenital-amaurosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "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-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-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": "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": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "decreased-light-and-dark-adapted-electroretinogram-amplitude",
        "name": "Decreased light- and dark-adapted electroretinogram amplitude",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/decreased-light-and-dark-adapted-electroretinogram-amplitude"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "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": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "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": "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"
        ],
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "optic-disc-drusen",
        "name": "Optic disc drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-disc-drusen"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "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": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "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": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "aipl1",
        "symbol": "AIPL1",
        "name": "AIP like 1 HSP90 co-chaperone",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aipl1"
      },
      {
        "slug": "cct2",
        "symbol": "CCT2",
        "name": "chaperonin containing TCP1 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cct2"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "name": "centrosomal protein 290",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cep290"
      },
      {
        "slug": "crb1",
        "symbol": "CRB1",
        "name": "crumbs cell polarity complex component 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/crb1"
      },
      {
        "slug": "crx",
        "symbol": "CRX",
        "name": "cone-rod homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/crx"
      },
      {
        "slug": "gucy2d",
        "symbol": "GUCY2D",
        "name": "guanylate cyclase 2D, retinal",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/gucy2d"
      },
      {
        "slug": "impdh1",
        "symbol": "IMPDH1",
        "name": "inosine monophosphate dehydrogenase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/impdh1"
      },
      {
        "slug": "kcnj13",
        "symbol": "KCNJ13",
        "name": "potassium inwardly rectifying channel subfamily J member 13",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/kcnj13"
      },
      {
        "slug": "lca5",
        "symbol": "LCA5",
        "name": "lebercilin LCA5",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/lca5"
      },
      {
        "slug": "lrat",
        "symbol": "LRAT",
        "name": "lecithin retinol acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/lrat"
      },
      {
        "slug": "nmnat1",
        "symbol": "NMNAT1",
        "name": "nicotinamide nucleotide adenylyltransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/nmnat1"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "name": "peripherin 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/prph2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}