{
  "url": "https://dantelabs.com/fr/genes/tbxas1",
  "gene": {
    "slug": "tbxas1",
    "symbol": "TBXAS1",
    "name": "thromboxane A synthase 1",
    "hgnc": "HGNC:11609",
    "summary": null,
    "location": "7q34",
    "locusType": "gene with protein product",
    "aliases": [
      "CYP5",
      "CYP5A1",
      "THAS",
      "TXS",
      "TXAS",
      "TS"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000059377",
    "entrezId": 6916,
    "omim": [
      "274180"
    ],
    "uniprot": [
      "P24557"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 139829264,
      "end": 140020293,
      "strand": "+",
      "ensemblTranscript": "ENST00000448866.7",
      "refseqTranscript": "NM_001061.7",
      "ensemblProtein": "ENSP00000402536.3",
      "refseqProtein": "NP_001052.3",
      "exons": [
        {
          "start": 139829264,
          "end": 139829479
        },
        {
          "start": 139872235,
          "end": 139872328
        },
        {
          "start": 139875585,
          "end": 139875637
        },
        {
          "start": 139911225,
          "end": 139911321
        },
        {
          "start": 139936191,
          "end": 139936307
        },
        {
          "start": 139953368,
          "end": 139953456
        },
        {
          "start": 139955459,
          "end": 139955607
        },
        {
          "start": 139957634,
          "end": 139957764
        },
        {
          "start": 139961919,
          "end": 139962233
        },
        {
          "start": 140007091,
          "end": 140007182
        },
        {
          "start": 140015723,
          "end": 140015860
        },
        {
          "start": 140017671,
          "end": 140017833
        },
        {
          "start": 140020025,
          "end": 140020293
        }
      ],
      "cds": {
        "start": 139829391,
        "end": 140020099
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 139476850,
      "end": 139720125,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 139424779,
      "end": 140424778,
      "genes": [
        {
          "symbol": "LUC7L2",
          "ensemblId": "ENSG00000146963",
          "biotype": "protein_coding",
          "start": 139340359,
          "end": 139425496,
          "strand": "+",
          "slug": "luc7l2"
        },
        {
          "symbol": "KLRG2",
          "ensemblId": "ENSG00000188883",
          "biotype": "protein_coding",
          "start": 139450625,
          "end": 139483719,
          "strand": "-",
          "slug": "klrg2"
        },
        {
          "symbol": "CLEC2L",
          "ensemblId": "ENSG00000236279",
          "biotype": "protein_coding",
          "start": 139523668,
          "end": 139544985,
          "strand": "+",
          "slug": "clec2l"
        },
        {
          "symbol": "HIPK2",
          "ensemblId": "ENSG00000064393",
          "biotype": "protein_coding",
          "start": 139561570,
          "end": 139778016,
          "strand": "-",
          "slug": "hipk2"
        },
        {
          "symbol": "PARP12",
          "ensemblId": "ENSG00000059378",
          "biotype": "protein_coding",
          "start": 140023742,
          "end": 140063344,
          "strand": "-",
          "slug": "parp12"
        },
        {
          "symbol": "KDM7A",
          "ensemblId": "ENSG00000006459",
          "biotype": "protein_coding",
          "start": 140084746,
          "end": 140177678,
          "strand": "-",
          "slug": "kdm7a"
        },
        {
          "symbol": "SLC37A3",
          "ensemblId": "ENSG00000157800",
          "biotype": "protein_coding",
          "start": 140293693,
          "end": 140404433,
          "strand": "-",
          "slug": "slc37a3"
        },
        {
          "symbol": "RAB19",
          "ensemblId": "ENSG00000146955",
          "biotype": "protein_coding",
          "start": 140404043,
          "end": 140427974,
          "strand": "+",
          "slug": "rab19"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "ghosal-haematodiaphyseal-dysplasia",
        "name": "Dysplasie hématodiaphysaire de Ghosal",
        "diseases": [
          {
            "mondoId": "MONDO:0009274",
            "name": "Dysplasie hématodiaphysaire de Ghosal",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Causée par des modifications des deux copies de TBXAS1, qui code la thromboxane synthase, une enzyme qui produit des molécules de signalisation influençant le remodelage osseux et la moelle osseuse. Chaque parent porte généralement une copie modifiée.",
            "management": "L'anémie et les modifications de la moelle osseuse répondent généralement bien à des corticoïdes à faible dose, d'où l'importance de reconnaître la maladie tôt. Les numérations sanguines et les os font l'objet d'un suivi dans le temps. Un conseil génétique et un dépistage porteur chez les apparentés permettent de préciser le risque de récurrence.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/ghosal-haematodiaphyseal-dysplasia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cortical-bone-morphology",
        "name": "Abnormal cortical bone morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cortical-bone-morphology"
      },
      {
        "slug": "abnormal-pelvic-girdle-bone-morphology",
        "name": "Abnormal shape of pelvic girdle bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pelvic-girdle-bone-morphology"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormal-vertebral-body-morphology",
        "name": "Abnormal vertebral body morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology"
      },
      {
        "slug": "abnormality-of-immune-system-physiology",
        "name": "Abnormality of immune system physiology",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-immune-system-physiology"
      },
      {
        "slug": "abnormal-tibia-morphology",
        "name": "Abnormality of the shankbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-tibia-morphology"
      },
      {
        "slug": "abnormal-femur-morphology",
        "name": "Abnormality of the thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-femur-morphology"
      },
      {
        "slug": "abnormal-metaphysis-morphology",
        "name": "Abnormality of the wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology"
      },
      {
        "slug": "bone-marrow-hypocellularity",
        "name": "Bone marrow failure",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      },
      {
        "slug": "bowing-of-the-long-bones",
        "name": "Bowing of the long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "slug": "metaphyseal-widening",
        "name": "Broad wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-widening"
      },
      {
        "slug": "cortical-thickening-of-long-bone-diaphyses",
        "name": "Cortical thickening of long bone diaphyses",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cortical-thickening-of-long-bone-diaphyses"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "decreased-serum-thromboxane-b2",
        "name": "Decreased serum thromboxane B2",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-serum-thromboxane-b2"
      },
      {
        "slug": "diaphyseal-dysplasia",
        "name": "Diaphyseal dysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diaphyseal-dysplasia"
      },
      {
        "slug": "craniofacial-hyperostosis",
        "name": "Enlargement of craniofacial bones",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/craniofacial-hyperostosis"
      },
      {
        "slug": "hyperostosis-cranialis-interna",
        "name": "Enlargement of the inner surface of the skull bones",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperostosis-cranialis-interna"
      },
      {
        "slug": "erythroid-dysplasia",
        "name": "Erythroid dysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythroid-dysplasia"
      },
      {
        "slug": "increased-bone-mineral-density",
        "name": "Increased bone mineral density",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-bone-mineral-density"
      },
      {
        "slug": "increased-density-of-long-bones",
        "name": "Increased density of long bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-density-of-long-bones"
      },
      {
        "slug": "reticulocytosis",
        "name": "Increased immature red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reticulocytosis"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "iron-deficiency-anemia",
        "name": "Iron deficiency anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/iron-deficiency-anemia"
      },
      {
        "slug": "knee-pain",
        "name": "Knee pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/knee-pain"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "megakaryocyte-dysplasia",
        "name": "Megakaryocyte dysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/megakaryocyte-dysplasia"
      },
      {
        "slug": "myelofibrosis",
        "name": "Myelofibrosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myelofibrosis"
      },
      {
        "slug": "normocytic-anemia",
        "name": "Normocytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/normocytic-anemia"
      },
      {
        "slug": "refractory-anemia",
        "name": "Refractory anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/refractory-anemia"
      },
      {
        "slug": "thickened-cortex-of-long-bones",
        "name": "Thickened cortex of long bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thickened-cortex-of-long-bones"
      },
      {
        "slug": "diaphyseal-undertubulation",
        "name": "Thickening of shaft or central part of long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diaphyseal-undertubulation"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}