{ "url": "https://dantelabs.com/de/genes/cd46", "gene": { "slug": "cd46", "symbol": "CD46", "name": "CD46 molecule", "hgnc": "HGNC:6953", "summary": null, "location": "1q32.2", "locusType": "gene with protein product", "aliases": [ "TRA2.10", "MGC26544", "TLX" ], "previousSymbols": [ "MIC10", "MCP" ], "ensemblId": "ENSG00000117335", "entrezId": 4179, "omim": [ "120920" ], "uniprot": [ "P15529" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 207752054, "end": 207795504, "strand": "+", "ensemblTranscript": "ENST00000367042.6", "refseqTranscript": "NM_172351.3", "ensemblProtein": "ENSP00000356009.1", "refseqProtein": "NP_758861.1", "exons": [ { "start": 207752054, "end": 207752309 }, { "start": 207757014, "end": 207757202 }, { "start": 207757540, "end": 207757642 }, { "start": 207759639, "end": 207759724 }, { "start": 207761249, "end": 207761446 }, { "start": 207767013, "end": 207767195 }, { "start": 207767779, "end": 207767823 }, { "start": 207770321, "end": 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}, { "mondoId": "MONDO:0035290", "name": "Atypisches hämolytisch-urämisches Syndrom mit Komplementgen-Anomalie", "genes": 5, "inheritance": "autosomal-dominant", "description": null, "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0016244", "name": "Atypisches hämolytisch-urämisches Syndrom", "genes": 7, "inheritance": "autosomal-dominant", "description": "Eine seltene, genetisch bedingte thrombotische Mikroangiopathie infolge einer Dysregulation des alternativen Komplementwegs, die durch die Trias aus hämolytischer Anämie, Thrombozytopenie und akuter Nierenfunktionsstörung gekennzeichnet ist.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0001549", "name": "Hämolytisch-urämisches Syndrom", "genes": 7, "inheritance": null, "description": "Akute Nierenschädigung in Verbindung mit mikroangiopathischer hämolytischer Anämie und Thrombozytopenie.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0957097", "name": "Hereditäres hämolytisch-urämisches Syndrom", "genes": 7, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/hemolytic-uremic-syndrome-interstitial-nephritis" }, { "slug": "immunodeficiency-disease", "name": "Sonstige angeborene Immundefekte", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Inborn error of immunity", "genes": 114, "inheritance": null, "description": "Erbliche Störungen des Immunsystems, die durch Veränderungen einzelner Gene verursacht werden und beeinflussen, wie der Körper Infektionen abwehrt oder Entzündungen reguliert.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": true }, { "mondoId": "MONDO:0021094", "name": "Immundefekterkrankung", "genes": 170, "inheritance": null, "description": "Erkrankung, bei der ein Mangel oder Defekt der Immunmechanismen vorliegt, entweder zellulärer oder humoraler Art.", "management": "HSCT bei SCID und schweren PID; Immunglobulinsubstitution (IVIG/SCIG) bei Antikörpermangelerkrankungen; Leniolisib (Joenja, FDA 2023) bei APDS; Gentherapie bei ADA-SCID; Abatacept bei CTLA4/LRBA-Mangel; prophylaktische Antibiotika; G-CSF bei CGD", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/de/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "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" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/acute-kidney-injury" }, { "slug": "back-pain", "name": "Back pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/back-pain" }, { "slug": "cerebral-hemorrhage", "name": "Bleeding in brain", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cerebral-hemorrhage" }, { "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": "decreased-mean-corpuscular-hemoglobin-concentration", "name": "Decreased mean corpuscular hemoglobin concentration", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-mean-corpuscular-hemoglobin-concentration" }, { "slug": "disseminated-intravascular-coagulation", "name": "Disseminated intravascular coagulation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/disseminated-intravascular-coagulation" }, { "slug": "elevated-circulating-creatinine-concentration", "name": "Elevated creatinine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration" }, { "slug": "epigastric-pain", "name": "Epigastric pain", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epigastric-pain" }, { "slug": "pulmonary-edema", "name": "Excess fluid in lungs", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonary-edema" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "pleural-effusion", "name": "Fluid around lungs", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pleural-effusion" }, { "slug": "generalized-edema", "name": "Generalized edema", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-edema" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hemoglobinuria", "name": "Hemoglobin in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemoglobinuria" }, { "slug": "hemolytic-anemia", "name": "Hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hemolytic-anemia" }, { "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": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "hypofibrinogenemia", "name": "Hypofibrinogenemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypofibrinogenemia" }, { "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": "increased-body-weight", "name": "Increased body weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-body-weight" }, { "slug": "increased-circulating-lactate-dehydrogenase-concentration", "name": "Increased circulating lactate dehydrogenase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration" }, { "slug": "internal-hemorrhage", "name": "Internal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/internal-hemorrhage" }, { "slug": "hypotension", "name": "Low blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotension" }, { "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" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "microangiopathic-hemolytic-anemia", "name": "Microangiopathic hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microangiopathic-hemolytic-anemia" }, { "slug": "nausea", "name": "Nausea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nausea" }, { "slug": "placental-abruption", "name": "Placental abruption", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/placental-abruption" }, { "slug": "poor-wound-healing", "name": "Poor wound healing", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/poor-wound-healing" }, { "slug": "prolonged-prothrombin-time", "name": "Prolonged prothrombin time", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prolonged-prothrombin-time" }, { "slug": "shoulder-pain", "name": "Shoulder pain", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/shoulder-pain" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "c3", "symbol": "C3", "name": "complement C3", "shared": 6, "url": "https://dantelabs.com/de/genes/c3" }, { "slug": "cfb", "symbol": "CFB", "name": "complement factor B", "shared": 6, "url": "https://dantelabs.com/de/genes/cfb" }, { "slug": "cfi", "symbol": "CFI", "name": "complement factor I", "shared": 6, "url": "https://dantelabs.com/de/genes/cfi" }, { "slug": "thbd", "symbol": "THBD", "name": "thrombomodulin", "shared": 6, "url": "https://dantelabs.com/de/genes/thbd" }, { "slug": "cfh", "symbol": "CFH", "name": "complement factor H", "shared": 5, "url": "https://dantelabs.com/de/genes/cfh" }, { "slug": "dgke", "symbol": "DGKE", "name": "diacylglycerol kinase epsilon", "shared": 5, "url": "https://dantelabs.com/de/genes/dgke" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/de/genes/aicda" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/de/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/de/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/de/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 2, "url": "https://dantelabs.com/de/genes/blnk" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/de/genes/btk" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }