{ "url": "https://dantelabs.com/tr/genes/tbx19", "gene": { "slug": "tbx19", "symbol": "TBX19", "name": "T-box transcription factor 19", "hgnc": "HGNC:11596", "summary": null, "location": "1q24.2", "locusType": "gene with protein product", "aliases": [ "dj747L4.1", "TPIT" ], "previousSymbols": [], "ensemblId": "ENSG00000143178", "entrezId": 9095, "omim": [ "604614" ], "uniprot": [ "O60806" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 168280877, "end": 168314426, "strand": "+", "ensemblTranscript": "ENST00000367821.8", "refseqTranscript": "NM_005149.3", "ensemblProtein": "ENSP00000356795.3", "refseqProtein": "NP_005140.1", "exons": [ { "start": 168280877, "end": 168281293 }, { "start": 168291160, "end": 168291424 }, { "start": 168293144, "end": 168293278 }, { "start": 168297724, "end": 168297785 }, { "start": 168300422, "end": 168300483 }, { "start": 168305008, "end": 168305196 }, { "start": 168308742, "end": 168308877 }, { "start": 168312708, "end": 168314426 } ], "cds": { "start": 168281091, "end": 168313002 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 168250278, "end": 168283664, "strand": "+" }, "neighbourhood": { "release": "116", "start": 167797652, "end": 168797651, "genes": [ { "symbol": "ADCY10", "ensemblId": "ENSG00000143199", "biotype": "protein_coding", "start": 167809098, "end": 167914215, "strand": "-", "slug": "adcy10" }, { "symbol": "MPC2", "ensemblId": "ENSG00000143158", "biotype": "protein_coding", "start": 167916675, "end": 167937515, "strand": "-", "slug": "mpc2" }, { "symbol": "DCAF6", "ensemblId": "ENSG00000143164", "biotype": "protein_coding", "start": 167935783, "end": 168076846, "strand": "+", "slug": "dcaf6" }, { "symbol": "GPR161", "ensemblId": "ENSG00000143147", "biotype": "protein_coding", "start": 168079542, "end": 168137685, "strand": "-", "slug": "gpr161" }, { "symbol": "TIPRL", "ensemblId": "ENSG00000143155", "biotype": "protein_coding", "start": 168178820, "end": 168202114, "strand": "+", "slug": "tiprl" }, { "symbol": "SFT2D2", "ensemblId": "ENSG00000213064", "biotype": "protein_coding", "start": 168225938, "end": 168263172, "strand": "+", "slug": "sft2d2" }, { "symbol": "XCL2", "ensemblId": "ENSG00000143185", "biotype": "protein_coding", "start": 168540765, "end": 168544113, "strand": "-", "slug": "xcl2" }, { "symbol": "XCL1", "ensemblId": "ENSG00000143184", "biotype": "protein_coding", "start": 168576596, "end": 168582069, "strand": "+", "slug": "xcl1" }, { "symbol": "DPT", "ensemblId": "ENSG00000143196", "biotype": "protein_coding", "start": 168695246, "end": 168729207, "strand": "-", "slug": "dpt" } ], "truncated": false }, "reports": [ { "slug": "hypogonadotropic-hypogonadism", "name": "Hipogonadotropik Hipogonadizm", "diseases": [ { "mondoId": "MONDO:0018555", "name": "Hipogonadotropik Hipogonadizm", "genes": 49, "inheritance": null, "description": "Hipotalamus-hipofiz ekseninden yeterli hormonal uyarı alınamaması nedeniyle yumurtalık veya testis fonksiyonunun bozulmasıdır.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/hypogonadotropic-hypogonadism" }, { "slug": "non-acquired-combined-pituitary-hormone-deficiency", "name": "Edinilmemiş Kombine Hipofiz Hormon Eksikliği", "diseases": [ { "mondoId": "MONDO:0013099", "name": "Genetik kökenli kombine hipofiz hormon yetmezliği", "genes": 13, "inheritance": null, "description": "PROP1, POU1F1, HESX1 ve ilgili nedenleri de içeren, birden fazla hipofiz hormonunun kalıtsal yetmezliği.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/non-acquired-combined-pituitary-hormone-deficiency" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "adrenocorticotropic-hormone-deficiency", "name": "Adrenocorticotropic hormone deficiency", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/adrenocorticotropic-hormone-deficiency" }, { "slug": "adrenocorticotropin-deficient-adrenal-insufficiency", "name": "Adrenocorticotropin deficient adrenal insufficiency", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/adrenocorticotropin-deficient-adrenal-insufficiency" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "hypoglycemic-seizures", "name": "Hypoglycemic seizures", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoglycemic-seizures" }, { "slug": "hyperkalemia", "name": "Increased circulating potassium concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hyperkalemia" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "hepatitis", "name": "Liver inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatitis" }, { "slug": "decreased-circulating-cortisol-level", "name": "Low blood cortisol level", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-cortisol-level" }, { "slug": "hypotension", "name": "Low blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotension" }, { "slug": "hyponatremia", "name": "Low blood sodium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyponatremia" }, { "slug": "neonatal-hypoglycemia", "name": "Low blood sugar in newborn", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/neonatal-hypoglycemia" }, { "slug": "fasting-hypoglycemia", "name": "Low blood sugar when fasting", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/fasting-hypoglycemia" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "cholestasis", "name": "Slowed or blocked flow of bile from liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/cholestasis" }, { "slug": "adrenal-hypoplasia", "name": "Small adrenal glands", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/adrenal-hypoplasia" } ], "related": [ { "slug": "foxa2", "symbol": "FOXA2", "name": "forkhead box A2", "shared": 2, "url": "https://dantelabs.com/tr/genes/foxa2" }, { "slug": "gh1", "symbol": "GH1", "name": "growth hormone 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/gh1" }, { "slug": "ghrhr", "symbol": "GHRHR", "name": "growth hormone releasing hormone receptor", "shared": 2, "url": "https://dantelabs.com/tr/genes/ghrhr" }, { "slug": "hesx1", "symbol": "HESX1", "name": "HESX homeobox 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/hesx1" }, { "slug": "lhx3", "symbol": "LHX3", "name": "LIM homeobox 3", "shared": 2, "url": "https://dantelabs.com/tr/genes/lhx3" }, { "slug": "lhx4", "symbol": "LHX4", "name": "LIM homeobox 4", "shared": 2, "url": "https://dantelabs.com/tr/genes/lhx4" }, { "slug": "otx2", "symbol": "OTX2", "name": "orthodenticle homeobox 2", "shared": 2, "url": "https://dantelabs.com/tr/genes/otx2" }, { "slug": "pou1f1", "symbol": "POU1F1", "name": "POU class 1 homeobox 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/pou1f1" }, { "slug": "prop1", "symbol": "PROP1", "name": "PROP paired-like homeobox 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/prop1" }, { "slug": "rnpc3", "symbol": "RNPC3", "name": "RNA binding region (RNP1, RRM) containing 3", "shared": 2, "url": "https://dantelabs.com/tr/genes/rnpc3" }, { "slug": "robo1", "symbol": "ROBO1", "name": "roundabout guidance receptor 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/robo1" }, { "slug": "sox3", "symbol": "SOX3", "name": "SRY-box transcription factor 3", "shared": 2, "url": "https://dantelabs.com/tr/genes/sox3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }