{
  "url": "https://dantelabs.com/fr/genes/tbx22",
  "gene": {
    "slug": "tbx22",
    "symbol": "TBX22",
    "name": "T-box transcription factor 22",
    "hgnc": "HGNC:11600",
    "summary": null,
    "location": "Xq21.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "CPX",
      "CLPA"
    ],
    "ensemblId": "ENSG00000122145",
    "entrezId": 50945,
    "omim": [
      "300307"
    ],
    "uniprot": [
      "Q9Y458"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 80014753,
      "end": 80031774,
      "strand": "+",
      "ensemblTranscript": "ENST00000373296.8",
      "refseqTranscript": "NM_001109878.2",
      "ensemblProtein": "ENSP00000362393.3",
      "refseqProtein": "NP_001103348.1",
      "exons": [
        {
          "start": 80014753,
          "end": 80014887
        },
        {
          "start": 80022268,
          "end": 80022444
        },
        {
          "start": 80023060,
          "end": 80023240
        },
        {
          "start": 80024063,
          "end": 80024164
        },
        {
          "start": 80025603,
          "end": 80025777
        },
        {
          "start": 80026704,
          "end": 80026868
        },
        {
          "start": 80027256,
          "end": 80027320
        },
        {
          "start": 80027991,
          "end": 80028076
        },
        {
          "start": 80030498,
          "end": 80031774
        }
      ],
      "cds": {
        "start": 80022270,
        "end": 80031111
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 79270255,
      "end": 79287268,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 79523264,
      "end": 80523263,
      "genes": [
        {
          "symbol": "TENT5D",
          "ensemblId": "ENSG00000174016",
          "biotype": "protein_coding",
          "start": 80335504,
          "end": 80445311,
          "strand": "+",
          "slug": "tent5d"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-orofacial-clefting",
        "name": "Fentes orofaciales héréditaires",
        "diseases": [
          {
            "mondoId": "MONDO:0010560",
            "name": "Fente palatine liée à l'X avec ou sans ankyloglossie",
            "genes": 1,
            "inheritance": null,
            "description": "Fente palatine et/ou ankyloglossie causées par des variants du gène TBX22 situé sur le chromosome X, généralement plus sévères chez les hommes.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/hereditary-orofacial-clefting"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-localization-of-kidney",
        "name": "Abnormal localisation of kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-localization-of-kidney"
      },
      {
        "slug": "abnormal-palate-morphology",
        "name": "Abnormality of the palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-palate-morphology"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "chorioretinal-coloboma",
        "name": "Birth defect that causes a hole in the innermost layer at the back of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chorioretinal-coloboma"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "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": "coronal-hypospadias",
        "name": "Coronal hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coronal-hypospadias"
      },
      {
        "slug": "dimple-chin",
        "name": "Dimple chin",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dimple-chin"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "ulnar-deviation-of-finger",
        "name": "Finger bends toward pinky",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ulnar-deviation-of-finger"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "radioulnar-synostosis",
        "name": "Fused forearm bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/radioulnar-synostosis"
      },
      {
        "slug": "toe-syndactyly",
        "name": "Fused toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/toe-syndactyly"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "coloboma",
        "name": "Notched pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coloboma"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-toe",
        "name": "Short toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-toe"
      },
      {
        "slug": "ankyloglossia",
        "name": "Tongue tied",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/ankyloglossia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}