{ "url": "https://dantelabs.com/pt/genes/tbx6", "gene": { "slug": "tbx6", "symbol": "TBX6", "name": "T-box transcription factor 6", "hgnc": "HGNC:11605", "summary": null, "location": "16p11.2", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000149922", "entrezId": 6911, "omim": [ "602427" ], "uniprot": [ "O95947" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 30085793, "end": 30091924, "strand": "-", "ensemblTranscript": "ENST00000395224.7", "refseqTranscript": "NM_004608.4", "ensemblProtein": "ENSP00000378650.2", "refseqProtein": "NP_004599.2", "exons": [ { "start": 30085793, "end": 30086438 }, { "start": 30086512, "end": 30086695 }, { "start": 30086778, "end": 30086851 }, { "start": 30088545, "end": 30088615 }, { "start": 30088693, "end": 30088839 }, { "start": 30088943, "end": 30089210 }, { "start": 30090758, "end": 30090992 }, { "start": 30091076, "end": 30091241 }, { "start": 30091873, "end": 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"ensemblId": "ENSG00000169592", "biotype": "protein_coding", "start": 29994983, "end": 30005794, "strand": "+", "slug": "ino80e" }, { "symbol": "DOC2A", "ensemblId": "ENSG00000149927", "biotype": "protein_coding", "start": 30005507, "end": 30023270, "strand": "-", "slug": "doc2a" }, { "symbol": "FIMP1", "ensemblId": "ENSG00000167194", "biotype": "protein_coding", "start": 30023198, "end": 30027736, "strand": "+", "slug": "fimp1" }, { "symbol": "TLCD3B", "ensemblId": "ENSG00000149926", "biotype": "protein_coding", "start": 30024425, "end": 30052978, "strand": "-", "slug": "tlcd3b" }, { "symbol": "", "ensemblId": "ENSG00000285043", "biotype": "protein_coding", "start": 30053101, "end": 30071526, "strand": "+" }, { "symbol": "ALDOA", "ensemblId": "ENSG00000149925", "biotype": "protein_coding", "start": 30064164, "end": 30070457, "strand": "+", "slug": "aldoa" }, { "symbol": "PPP4C", "ensemblId": "ENSG00000149923", "biotype": "protein_coding", "start": 30075967, "end": 30085391, "strand": "+", "slug": "ppp4c" }, { "symbol": "YPEL3", "ensemblId": "ENSG00000090238", "biotype": "protein_coding", "start": 30092314, "end": 30096915, "strand": "-", "slug": "ypel3" }, { "symbol": "GDPD3", "ensemblId": "ENSG00000102886", "biotype": "protein_coding", "start": 30104810, "end": 30114034, "strand": "-", "slug": "gdpd3" }, { "symbol": "MAPK3", "ensemblId": "ENSG00000102882", "biotype": "protein_coding", "start": 30114104, "end": 30123506, "strand": "-", "slug": "mapk3" }, { "symbol": "CORO1A", "ensemblId": "ENSG00000102879", "biotype": "protein_coding", "start": 30182798, "end": 30189085, "strand": "+", "slug": "coro1a" }, { "symbol": "BOLA2B", "ensemblId": "ENSG00000169627", "biotype": "protein_coding", "start": 30192928, "end": 30194306, "strand": "-", "slug": "bola2b" }, { "symbol": "SLX1A", "ensemblId": "ENSG00000132207", "biotype": "protein_coding", "start": 30193875, "end": 30197566, "strand": "+", "slug": "slx1a" }, { "symbol": "SULT1A3", "ensemblId": "ENSG00000261052", "biotype": "protein_coding", "start": 30198059, "end": 30204324, "strand": "+", "slug": "sult1a3" }, { "symbol": "NPIPB13", "ensemblId": "ENSG00000198064", "biotype": "protein_coding", "start": 30222893, "end": 30255268, "strand": "-", "slug": "npipb13" }, { "symbol": "CD2BP2", "ensemblId": "ENSG00000169217", "biotype": "protein_coding", "start": 30341365, "end": 30355851, "strand": "-", "slug": "cd2bp2" }, { "symbol": "TBC1D10B", "ensemblId": "ENSG00000169221", "biotype": "protein_coding", "start": 30357102, "end": 30370529, "strand": "-", "slug": "tbc1d10b" }, { "symbol": "MYL11", "ensemblId": "ENSG00000180209", "biotype": "protein_coding", "start": 30370332, "end": 30377991, "strand": "+", "slug": "myl11" }, { "symbol": "ZNF48", "ensemblId": "ENSG00000180035", "biotype": "protein_coding", "start": 30378106, "end": 30400108, "strand": "+", "slug": "znf48" }, { "symbol": "SEPTIN1", "ensemblId": "ENSG00000180096", "biotype": "protein_coding", "start": 30378135, "end": 30395991, "strand": "-", "slug": "septin1" }, { "symbol": "ZNF771", "ensemblId": "ENSG00000179965", "biotype": "protein_coding", "start": 30407143, "end": 30431108, "strand": "+", "slug": "znf771" }, { "symbol": "DCTPP1", "ensemblId": "ENSG00000179958", "biotype": "protein_coding", "start": 30413033, "end": 30430162, "strand": "-", "slug": "dctpp1" }, { "symbol": "SEPHS2", "ensemblId": "ENSG00000179918", "biotype": "protein_coding", "start": 30443631, "end": 30445874, "strand": "-", "slug": "sephs2" }, { "symbol": "ITGAL", "ensemblId": "ENSG00000005844", "biotype": "protein_coding", "start": 30472658, "end": 30523567, "strand": "+", "slug": "itgal" }, { "symbol": "ZNF768", "ensemblId": "ENSG00000169957", "biotype": "protein_coding", "start": 30524001, "end": 30527328, "strand": "-", "slug": "znf768" }, { "symbol": "", "ensemblId": "ENSG00000261459", "biotype": "protein_coding", "start": 30525923, "end": 30534852, "strand": "-" }, { "symbol": "ZNF747", "ensemblId": "ENSG00000169955", "biotype": "protein_coding", "start": 30529534, "end": 30535347, "strand": "-", "slug": "znf747" }, { "symbol": "ZNF764", "ensemblId": "ENSG00000169951", "biotype": "protein_coding", "start": 30553764, "end": 30558524, "strand": "-", "slug": "znf764" }, { "symbol": "ZNF688", "ensemblId": "ENSG00000229809", "biotype": "protein_coding", "start": 30569281, "end": 30572734, "strand": "-", "slug": "znf688" }, { "symbol": "ZNF785", "ensemblId": "ENSG00000197162", "biotype": "protein_coding", "start": 30573740, "end": 30585806, "strand": "-", "slug": "znf785" } ], "truncated": false }, "reports": [ { "slug": "mullerian-aplasia-mrkh-syndrome", "name": "Aplasia Mülleriana (Síndrome de MRKH)", "diseases": [ { "mondoId": "MONDO:0019128", "name": "Aplasia mülleriana, incluindo a síndrome de Mayer-Rokitansky-Küster-Hauser (MRKH)", "genes": 2, "inheritance": null, "description": "Útero e parte superior da vagina ausentes ou pouco desenvolvidos, com ovários tipicamente normais, por vezes com anomalias renais ou esqueléticas, associados a variantes em WNT4, TBX6, LHX1, HNF1B e GREB1L.", "management": "Um diagnóstico de WNT4 indica hiperandrogenismo que necessita de acompanhamento, e as anomalias renais associadas justificam a realização de imagiologia renal.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/mullerian-aplasia-mrkh-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormal-intervertebral-disk-morphology", "name": "Abnormal intervertebral disk morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-intervertebral-disk-morphology" }, { "slug": "abnormal-morphology-of-female-internal-genitalia", "name": "Abnormal morphology of female internal genitalia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-morphology-of-female-internal-genitalia" }, { "slug": "abnormal-sacrum-morphology", "name": "Abnormal sacrum morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-sacrum-morphology" }, { "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-rib-morphology", "name": "Abnormality of the ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-rib-morphology" }, { "slug": "abnormality-of-the-ureter", "name": "Abnormality of the ureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-ureter" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "anomalous-pulmonary-venous-return", "name": "Anomalous pulmonary venous return", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anomalous-pulmonary-venous-return" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "broad-forehead", "name": "Broad forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/broad-forehead" }, { "slug": "butterfly-vertebrae", "name": "Butterfly vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/butterfly-vertebrae" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "congenital-diaphragmatic-hernia", "name": "Congenital diaphragmatic hernia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congenital-diaphragmatic-hernia" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "disproportionate-short-trunk-short-stature", "name": "Disproportionate short-trunked short stature", "systems": [ "abnormality-of-the-musculoskeletal-system", "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/disproportionate-short-trunk-short-stature" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "supernumerary-ribs", "name": "Extra ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/supernumerary-ribs" }, { "slug": "finger-syndactyly", "name": "Finger syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/finger-syndactyly" }, { "slug": "syringomyelia", "name": "Fluid-filled cyst in spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/syringomyelia" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "inguinal-hernia", "name": "Inguinal hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/inguinal-hernia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "long-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-philtrum" }, { "slug": "low-back-pain", "name": "Lumbago", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "url": "https://dantelabs.com/traits/low-back-pain" }, { "slug": "meningocele", "name": "Meningocele", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/meningocele" }, { "slug": "hemivertebrae", "name": "Missing part of vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hemivertebrae" }, { "slug": "missing-ribs", "name": "Missing ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/missing-ribs" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "camptodactyly-of-finger", "name": "Permanent flexion of the finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/camptodactyly-of-finger" }, { "slug": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "posterior-rib-fusion", "name": "Posterior rib fusion", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/posterior-rib-fusion" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "prominent-occiput", "name": "Prominent back of the head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-occiput" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "rib-fusion", "name": "Rib fusion", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/rib-fusion" }, { "slug": "rib-segmentation-abnormalities", "name": "Rib segmentation abnormalities", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/rib-segmentation-abnormalities" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "severe-short-stature", "name": "Severe short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-short-stature" }, { "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-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "short-thorax", "name": "Shorter than typical length between neck and abdomen", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-thorax" }, { "slug": "spina-bifida-occulta", "name": "Spina bifida occulta", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spina-bifida-occulta" }, { "slug": "umbilical-hernia", "name": "Umbilical hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/umbilical-hernia" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "upslanted-palpebral-fissure", "name": "Upward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure" }, { "slug": "urogenital-fistula", "name": "Urogenital fistula", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urogenital-fistula" }, { "slug": "vertebral-fusion", "name": "Vertebral fusion", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vertebral-fusion" }, { "slug": "vertebral-segmentation-defect", "name": "Vertebral segmentation defect", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/vertebral-segmentation-defect" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-nasal-bridge" } ], "related": [ { "slug": "wnt4", "symbol": "WNT4", "name": "Wnt family member 4", "shared": 1, "url": "https://dantelabs.com/pt/genes/wnt4" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }