{ "url": "https://dantelabs.com/da/genes/thbd", "gene": { "slug": "thbd", "symbol": "THBD", "name": "thrombomodulin", "hgnc": "HGNC:11784", "summary": null, "location": "20p11.21", "locusType": "gene with protein product", "aliases": [ "CD141", "THRM", "BDCA-3" ], "previousSymbols": [], "ensemblId": "ENSG00000178726", "entrezId": 7056, "omim": [ "188040" ], "uniprot": [ "P07204" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 23045633, "end": 23049672, "strand": "-", "ensemblTranscript": "ENST00000377103.3", "refseqTranscript": "NM_000361.3", "ensemblProtein": "ENSP00000366307.2", "refseqProtein": "NP_000352.1", "exons": [ { "start": 23045633, "end": 23049672 } ], "cds": { "start": 23047777, "end": 23049504 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "20", "start": 23026270, "end": 23030378, "strand": "-" }, "neighbourhood": { "release": "116", "start": 22547653, "end": 23547652, "genes": [ { "symbol": "FOXA2", "ensemblId": "ENSG00000125798", "biotype": "protein_coding", "start": 22580998, "end": 22585498, "strand": "-", "slug": "foxa2" }, { "symbol": "SSTR4", "ensemblId": "ENSG00000132671", "biotype": "protein_coding", "start": 23035312, "end": 23039237, "strand": "+", "slug": "sstr4" }, { "symbol": "CD93", "ensemblId": "ENSG00000125810", "biotype": "protein_coding", "start": 23065139, "end": 23086393, "strand": "-", "slug": "cd93" }, { "symbol": "NXT1", "ensemblId": "ENSG00000132661", "biotype": "protein_coding", "start": 23350148, "end": 23354771, "strand": "+", "slug": "nxt1" }, { "symbol": "GZF1", "ensemblId": "ENSG00000125812", "biotype": "protein_coding", "start": 23361987, "end": 23373084, "strand": "+", "slug": "gzf1" }, { "symbol": "NAPB", "ensemblId": "ENSG00000125814", "biotype": "protein_coding", "start": 23371267, "end": 23421520, "strand": "-", "slug": "napb" }, { "symbol": "CSTL1", "ensemblId": "ENSG00000125823", "biotype": "protein_coding", "start": 23426104, "end": 23444930, "strand": "+", "slug": "cstl1" }, { "symbol": "CST11", "ensemblId": "ENSG00000125831", "biotype": "protein_coding", "start": 23450403, "end": 23453210, "strand": "-", "slug": "cst11" }, { "symbol": "CST8", "ensemblId": "ENSG00000125815", "biotype": "protein_coding", "start": 23491101, "end": 23496010, "strand": "+", "slug": "cst8" } ], "truncated": false }, "reports": [ { "slug": "hemolytic-uremic-syndrome-interstitial-nephritis", "name": "Hæmolytisk uræmisk syndrom, interstitiel nefritis", "diseases": [ { "mondoId": "MONDO:0013044", "name": "Atypisk hæmolytisk uræmisk syndrom med trombomodulinanomali", "genes": 1, "inheritance": "autosomal-dominant", "description": null, "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0035290", "name": "Atypisk hæmolytisk uræmisk syndrom med komplementgenafvigelse", "genes": 5, "inheritance": "autosomal-dominant", "description": null, "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0016244", "name": "Atypisk hæmolytisk uræmisk syndrom", "genes": 7, "inheritance": "autosomal-dominant", "description": "En sjælden, genetisk trombotisk mikroangiopati på grund af dysregulering af den alternative komplementvej, kendetegnet ved triaden af hæmolytisk anæmi, trombocytopeni og akut nyredysfunktion.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0001549", "name": "Hæmolytisk uræmisk syndrom", "genes": 7, "inheritance": null, "description": "Akut nyreskade forbundet med mikroangiopatisk hæmolytisk anæmi og trombocytopeni.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0957097", "name": "Arvelig hæmolytisk uræmisk syndrom", "genes": 7, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/da/conditions/hemolytic-uremic-syndrome-interstitial-nephritis" }, { "slug": "thrombophilia", "name": "Trombofili", "diseases": [ { "mondoId": "MONDO:0100240", "name": "Nedarvet trombofili", "genes": 9, "inheritance": null, "description": null, "management": "Antikoagulation (varighed afhænger af genotype); undgå østrogenholdige præventionsmidler; LMWH til forebyggelse under graviditet; forlænget antikoagulation efter operation; livslang antikoagulation ved sammensatte eller højrisikogenotyper", "evidence": { "gencc": [ "Genomics England PanelApp" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/da/conditions/thrombophilia" }, { "slug": "immunodeficiency-disease", "name": "Andre medfødte immunsvigt", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Medfødt immundefekt", "genes": 114, "inheritance": null, "description": "Arvelige sygdomme i immunsystemet, forårsaget af ændringer i enkelte gener, som påvirker kroppens evne til at bekæmpe infektioner eller regulere inflammation.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true }, { "mondoId": "MONDO:0021094", "name": "Immunsvigtsygdom", "genes": 170, "inheritance": null, "description": "Sygdom, hvor der er mangel på eller defekt i immunforsvarets mekanismer, enten cellulære eller humorale.", "management": "HSCT ved SCID og alvorlige PID'er; immunglobulinbehandling (IVIG/SCIG) ved antistofmangel; leniolisib (Joenja, FDA 2023) ved APDS; genterapi ved ADA-SCID; abatacept ved CTLA4-/LRBA-mangel; profylaktiske antibiotika; G-CSF ved CGD", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/da/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "anuria", "name": "Absent urine output", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/anuria" }, { "slug": "acute-kidney-injury", "name": "Acute kidney injury", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/acute-kidney-injury" }, { "slug": "deep-venous-thrombosis", "name": "Blood clot in a deep vein", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/deep-venous-thrombosis" }, { "slug": "pulmonary-embolism", "name": "Blood clot in artery of lung", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-embolism" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "decreased-circulating-complement-c3-concentration", "name": "Decreased circulating complement C3 concentration", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-complement-c3-concentration" }, { "slug": "elevated-circulating-creatinine-concentration", "name": "Elevated creatinine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration" }, { "slug": "hemolytic-uremic-syndrome", "name": "Hemolytic-uremic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hemolytic-uremic-syndrome" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "hypercoagulability", "name": "Hypercoagulability", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/hypercoagulability" }, { "slug": "increased-blood-urea-nitrogen", "name": "Increased blood urea nitrogen", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-blood-urea-nitrogen" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/anemia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "microangiopathic-hemolytic-anemia", "name": "Microangiopathic hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/microangiopathic-hemolytic-anemia" } ], "related": [ { "slug": "c3", "symbol": "C3", "name": "complement C3", "shared": 6, "url": "https://dantelabs.com/da/genes/c3" }, { "slug": "cd46", "symbol": "CD46", "name": "CD46 molecule", "shared": 6, "url": "https://dantelabs.com/da/genes/cd46" }, { "slug": "cfb", "symbol": "CFB", "name": "complement factor B", "shared": 6, "url": "https://dantelabs.com/da/genes/cfb" }, { "slug": "cfi", "symbol": "CFI", "name": "complement factor I", "shared": 6, "url": "https://dantelabs.com/da/genes/cfi" }, { "slug": "cfh", "symbol": "CFH", "name": "complement factor H", "shared": 5, "url": "https://dantelabs.com/da/genes/cfh" }, { "slug": "dgke", "symbol": "DGKE", "name": "diacylglycerol kinase epsilon", "shared": 5, "url": "https://dantelabs.com/da/genes/dgke" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/da/genes/aicda" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/da/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/da/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/da/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 2, "url": "https://dantelabs.com/da/genes/blnk" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/da/genes/btk" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }