{
  "url": "https://dantelabs.com/it/genes/atoh7",
  "gene": {
    "slug": "atoh7",
    "symbol": "ATOH7",
    "name": "atonal bHLH transcription factor 7",
    "hgnc": "HGNC:13907",
    "summary": null,
    "location": "10q21.3",
    "locusType": "gene with protein product",
    "aliases": [
      "Math5",
      "bHLHa13"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000179774",
    "entrezId": 220202,
    "omim": [
      "609875"
    ],
    "uniprot": [
      "Q8N100"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 68230595,
      "end": 68232113,
      "strand": "-",
      "ensemblTranscript": "ENST00000373673.5",
      "refseqTranscript": "NM_145178.4",
      "ensemblProtein": "ENSP00000362777.3",
      "refseqProtein": "NP_660161.1",
      "exons": [
        {
          "start": 68230595,
          "end": 68232113
        }
      ],
      "cds": {
        "start": 68231219,
        "end": 68231677
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 69990386,
      "end": 69991871,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 67731354,
      "end": 68731353,
      "genes": [
        {
          "symbol": "CTNNA3",
          "ensemblId": "ENSG00000183230",
          "biotype": "protein_coding",
          "start": 65912457,
          "end": 67763637,
          "strand": "-",
          "slug": "ctnna3"
        },
        {
          "symbol": "DNAJC12",
          "ensemblId": "ENSG00000108176",
          "biotype": "protein_coding",
          "start": 67796665,
          "end": 67850195,
          "strand": "-",
          "slug": "dnajc12"
        },
        {
          "symbol": "SIRT1",
          "ensemblId": "ENSG00000096717",
          "biotype": "protein_coding",
          "start": 67884647,
          "end": 67918392,
          "strand": "+",
          "slug": "sirt1"
        },
        {
          "symbol": "HERC4",
          "ensemblId": "ENSG00000148634",
          "biotype": "protein_coding",
          "start": 67921899,
          "end": 68075353,
          "strand": "-",
          "slug": "herc4"
        },
        {
          "symbol": "MYPN",
          "ensemblId": "ENSG00000138347",
          "biotype": "protein_coding",
          "start": 68087897,
          "end": 68212017,
          "strand": "+",
          "slug": "mypn"
        },
        {
          "symbol": "PBLD",
          "ensemblId": "ENSG00000108187",
          "biotype": "protein_coding",
          "start": 68262014,
          "end": 68334114,
          "strand": "-",
          "slug": "pbld"
        },
        {
          "symbol": "HNRNPH3",
          "ensemblId": "ENSG00000096746",
          "biotype": "protein_coding",
          "start": 68331174,
          "end": 68344002,
          "strand": "+",
          "slug": "hnrnph3"
        },
        {
          "symbol": "RUFY2",
          "ensemblId": "ENSG00000204130",
          "biotype": "protein_coding",
          "start": 68341107,
          "end": 68407381,
          "strand": "-",
          "slug": "rufy2"
        },
        {
          "symbol": "DNA2",
          "ensemblId": "ENSG00000138346",
          "biotype": "protein_coding",
          "start": 68414061,
          "end": 68472121,
          "strand": "-",
          "slug": "dna2"
        },
        {
          "symbol": "SLC25A16",
          "ensemblId": "ENSG00000122912",
          "biotype": "protein_coding",
          "start": 68473079,
          "end": 68527539,
          "strand": "-",
          "slug": "slc25a16"
        },
        {
          "symbol": "TET1",
          "ensemblId": "ENSG00000138336",
          "biotype": "protein_coding",
          "start": 68560285,
          "end": 68698063,
          "strand": "+",
          "slug": "tet1"
        },
        {
          "symbol": "CCAR1",
          "ensemblId": "ENSG00000060339",
          "biotype": "protein_coding",
          "start": 68721012,
          "end": 68793908,
          "strand": "+",
          "slug": "ccar1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "vitreoretinopathy",
        "name": "Vitreoretinopatia",
        "diseases": [
          {
            "mondoId": "MONDO:0019631",
            "name": "Persistenza del vitreo primitivo iperplastico",
            "genes": 1,
            "inheritance": null,
            "description": "Anomalia oculare dello sviluppo in cui il corpo vitreo primario e la vascolarizzazione ialoidea circostante non regrediscono. È solitamente unilaterale ed è caratterizzata da cataratta, microftalmo (bulbi oculari di dimensioni ridotte) e tessuto fibrovascolare retrolenticolare. (tratto da Yanoff: Ophthalmology, 2ª ed.)",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/vitreoretinopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "angle-closure-glaucoma",
        "name": "Angle closure glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/angle-closure-glaucoma"
      },
      {
        "slug": "hemorrhage-of-the-eye",
        "name": "Bleeding from the eye",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemorrhage-of-the-eye"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "ectopic-calcification",
        "name": "Ectopic calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ectopic-calcification"
      },
      {
        "slug": "buphthalmos",
        "name": "Enlarged eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/buphthalmos"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "glial-remnants-anterior-to-the-optic-disc",
        "name": "Glial remnants anterior to the optic disc",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glial-remnants-anterior-to-the-optic-disc"
      },
      {
        "slug": "hyaloid-vascular-remnant-and-retrolental-mass",
        "name": "Hyaloid vascular remnant and retrolental mass",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyaloid-vascular-remnant-and-retrolental-mass"
      },
      {
        "slug": "hyphema",
        "name": "Hyphema",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hyphema"
      },
      {
        "slug": "epiphora",
        "name": "Increased tears",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epiphora"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "leukocoria",
        "name": "Leukocoria",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/leukocoria"
      },
      {
        "slug": "macular-hypoplasia",
        "name": "Macular hypoplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macular-hypoplasia"
      },
      {
        "slug": "pendular-nystagmus",
        "name": "Pendular nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/pendular-nystagmus"
      },
      {
        "slug": "persistent-pupillary-membrane",
        "name": "Persistent pupillary membrane",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/persistent-pupillary-membrane"
      },
      {
        "slug": "phthisis-bulbi",
        "name": "Phthisis bulbi",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/phthisis-bulbi"
      },
      {
        "slug": "posterior-synechiae-of-the-anterior-chamber",
        "name": "Posterior synechiae of the anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/posterior-synechiae-of-the-anterior-chamber"
      },
      {
        "slug": "remnants-of-the-hyaloid-vascular-system",
        "name": "Remnants of the hyaloid vascular system",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/remnants-of-the-hyaloid-vascular-system"
      },
      {
        "slug": "retinal-fold",
        "name": "Retinal fold",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-fold"
      },
      {
        "slug": "retinal-nonattachment",
        "name": "Retinal nonattachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-nonattachment"
      },
      {
        "slug": "shallow-anterior-chamber",
        "name": "Shallow anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/shallow-anterior-chamber"
      },
      {
        "slug": "tractional-retinal-detachment",
        "name": "Tractional retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tractional-retinal-detachment"
      },
      {
        "slug": "ultra-low-vision-with-no-light-perception",
        "name": "Ultra-low vision with no light perception",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ultra-low-vision-with-no-light-perception"
      },
      {
        "slug": "uveitis",
        "name": "Uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/uveitis"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}