{
  "url": "https://dantelabs.com/tr/genes/tbr1",
  "gene": {
    "slug": "tbr1",
    "symbol": "TBR1",
    "name": "T-box brain transcription factor 1",
    "hgnc": "HGNC:11590",
    "summary": null,
    "location": "2q24.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000136535",
    "entrezId": 10716,
    "omim": [
      "604616"
    ],
    "uniprot": [
      "Q16650"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 161416297,
      "end": 161425870,
      "strand": "+",
      "ensemblTranscript": "ENST00000389554.8",
      "refseqTranscript": "NM_006593.4",
      "ensemblProtein": "ENSP00000374205.3",
      "refseqProtein": "NP_006584.1",
      "exons": [
        {
          "start": 161416297,
          "end": 161417102
        },
        {
          "start": 161417676,
          "end": 161417830
        },
        {
          "start": 161418201,
          "end": 161418322
        },
        {
          "start": 161418892,
          "end": 161419050
        },
        {
          "start": 161420196,
          "end": 161420257
        },
        {
          "start": 161423369,
          "end": 161425870
        }
      ],
      "cds": {
        "start": 161416411,
        "end": 161424227
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 162272605,
      "end": 162282381,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 160921084,
      "end": 161921083,
      "genes": [
        {
          "symbol": "TANK",
          "ensemblId": "ENSG00000136560",
          "biotype": "protein_coding",
          "start": 161136908,
          "end": 161236568,
          "strand": "+",
          "slug": "tank"
        },
        {
          "symbol": "PSMD14",
          "ensemblId": "ENSG00000115233",
          "biotype": "protein_coding",
          "start": 161308408,
          "end": 161411726,
          "strand": "+",
          "slug": "psmd14"
        },
        {
          "symbol": "SLC4A10",
          "ensemblId": "ENSG00000144290",
          "biotype": "protein_coding",
          "start": 161424332,
          "end": 161985329,
          "strand": "+",
          "slug": "slc4a10"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autism-spectrum-disorder",
        "name": "Otizm Spektrum Bozukluğu",
        "diseases": [
          {
            "mondoId": "MONDO:0005258",
            "name": "Otizm Spektrum Bozukluğu",
            "genes": 5,
            "inheritance": null,
            "description": "Otizmi ve Asperger sendromunu içeren bir gelişimsel bozukluklar spektrumudur. Belirti ve bulgular arasında zayıf iletişim becerileri, bozulmuş sosyal etkileşimler ve tekrarlayıcı davranışlar yer alır.",
            "management": "Erken müdahale hizmetleri, davranış terapisi, konuşma ve mesleki terapi, ilişkili özellikler için psikofarmakoloji",
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          },
          {
            "mondoId": "MONDO:0020836",
            "name": "Otizm, yatkınlık (tek gen formları)",
            "genes": 6,
            "inheritance": null,
            "description": "Otizme tek gen katkıları; NLGN3, NLGN4X, PTCHD1, SHANK2, TBR1 ve CHD8 genlerindeki varyantları içerir.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/autism-spectrum-disorder"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-oral-frenulum-morphology",
        "name": "Abnormal oral frenulum morphology",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-oral-frenulum-morphology"
      },
      {
        "slug": "abnormality-iris-morphology",
        "name": "Abnormality of the iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-iris-morphology"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "bullet-shaped-distal-phalanx-of-the-hallux",
        "name": "Bullet-shaped outermost bone of big toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bullet-shaped-distal-phalanx-of-the-hallux"
      },
      {
        "slug": "central-apnea",
        "name": "Central apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/central-apnea"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "toe-syndactyly",
        "name": "Fused toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/toe-syndactyly"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hand-clenching",
        "name": "Hand clenching",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hand-clenching"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "long-fingers",
        "name": "Long fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/long-fingers"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "coloboma",
        "name": "Notched pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coloboma"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "reduced-social-responsiveness",
        "name": "Poor social interactions",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/reduced-social-responsiveness"
      },
      {
        "slug": "motor-stereotypy",
        "name": "Repetitive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-stereotypy"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-philtrum",
        "name": "Short philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-philtrum"
      },
      {
        "slug": "small-face",
        "name": "Small face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-face"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "chd8",
        "symbol": "CHD8",
        "name": "chromodomain helicase DNA binding protein 8",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/chd8"
      },
      {
        "slug": "dscam",
        "symbol": "DSCAM",
        "name": "DS cell adhesion molecule",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/dscam"
      },
      {
        "slug": "nlgn3",
        "symbol": "NLGN3",
        "name": "neuroligin 3",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/nlgn3"
      },
      {
        "slug": "nlgn4x",
        "symbol": "NLGN4X",
        "name": "neuroligin 4 X-linked",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/nlgn4x"
      },
      {
        "slug": "ptchd1",
        "symbol": "PTCHD1",
        "name": "patched domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ptchd1"
      },
      {
        "slug": "rims1",
        "symbol": "RIMS1",
        "name": "regulating synaptic membrane exocytosis 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/rims1"
      },
      {
        "slug": "shank1",
        "symbol": "SHANK1",
        "name": "SH3 and multiple ankyrin repeat domains 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/shank1"
      },
      {
        "slug": "shank2",
        "symbol": "SHANK2",
        "name": "SH3 and multiple ankyrin repeat domains 2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/shank2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}