{ "url": "https://dantelabs.com/de/genes/cd79b", "gene": { "slug": "cd79b", "symbol": "CD79B", "name": "CD79b molecule", "hgnc": "HGNC:1699", "summary": null, "location": "17q23.3", "locusType": "gene with protein product", "aliases": [ "B29", "Ig-beta", "Igbeta" ], "previousSymbols": [ "IGB" ], "ensemblId": "ENSG00000007312", "entrezId": 974, "omim": [ "147245" ], "uniprot": [ "P40259" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 63928740, "end": 63932331, "strand": "-", "ensemblTranscript": "ENST00000006750.8", "refseqTranscript": "NM_000626.4", "ensemblProtein": "ENSP00000006750.4", "refseqProtein": "NP_000617.1", "exons": [ { "start": 63928740, "end": 63929324 }, { "start": 63929434, "end": 63929475 }, { "start": 63929770, "end": 63929888 }, { "start": 63930074, "end": 63930385 }, { "start": 63931335, "end": 63931385 }, { "start": 63932195, "end": 63932331 } ], "cds": { "start": 63929226, "end": 63932261 } }, "grch37": { "build": "GRCh37", "release": 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"protein_coding", "start": 63773603, "end": 63820451, "strand": "+", "slug": "ddx42" }, { "symbol": "FTSJ3", "ensemblId": "ENSG00000108592", "biotype": "protein_coding", "start": 63819113, "end": 63830012, "strand": "-", "slug": "ftsj3" }, { "symbol": "PSMC5", "ensemblId": "ENSG00000087191", "biotype": "protein_coding", "start": 63827082, "end": 63832244, "strand": "+", "slug": "psmc5" }, { "symbol": "SMARCD2", "ensemblId": "ENSG00000108604", "biotype": "protein_coding", "start": 63832078, "end": 63843065, "strand": "-", "slug": "smarcd2" }, { "symbol": "CSH2", "ensemblId": "ENSG00000213218", "biotype": "protein_coding", "start": 63872007, "end": 63873769, "strand": "-", "slug": "csh2" }, { "symbol": "GH2", "ensemblId": "ENSG00000136487", "biotype": "protein_coding", "start": 63880205, "end": 63881970, "strand": "-", "slug": "gh2" }, { "symbol": "CSH1", "ensemblId": "ENSG00000136488", "biotype": "protein_coding", "start": 63894906, "end": 63896667, "strand": "-", "slug": "csh1" }, { "symbol": "CSHL1", "ensemblId": "ENSG00000204414", "biotype": "protein_coding", "start": 63909596, "end": 63911348, "strand": "-", "slug": "cshl1" }, { "symbol": "GH1", "ensemblId": "ENSG00000259384", "biotype": "protein_coding", "start": 63917200, "end": 63918839, "strand": "-", "slug": "gh1" }, { "symbol": "", "ensemblId": "ENSG00000285947", "biotype": "protein_coding", "start": 63917203, "end": 63931385, "strand": "-" }, { "symbol": "SCN4A", "ensemblId": "ENSG00000007314", "biotype": "protein_coding", "start": 63938554, "end": 63972918, "strand": "-", "slug": "scn4a" }, { "symbol": "PRR29", "ensemblId": "ENSG00000224383", "biotype": "protein_coding", "start": 63998344, "end": 64004305, "strand": "+", "slug": "prr29" }, { "symbol": "ICAM2", "ensemblId": "ENSG00000108622", "biotype": "protein_coding", "start": 64002594, "end": 64020640, "strand": "-", "slug": "icam2" }, { "symbol": "ERN1", "ensemblId": "ENSG00000178607", "biotype": "protein_coding", "start": 64039080, "end": 64130819, "strand": "-", "slug": "ern1" }, { "symbol": "TEX2", "ensemblId": "ENSG00000136478", "biotype": "protein_coding", "start": 64147227, "end": 64263293, "strand": "-", "slug": "tex2" }, { "symbol": "PECAM1", "ensemblId": "ENSG00000261371", "biotype": "protein_coding", "start": 64319415, "end": 64431594, "strand": "-", "slug": "pecam1" } ], "truncated": false }, "reports": [ { "slug": "agammaglobulinemia", "name": "Agammaglobulinämie (X-chromosomal und autosomale Formen)", "diseases": [ { "mondoId": "MONDO:0011096", "name": "Autosomale Agammaglobulinämie", "genes": 7, "inheritance": null, "description": "Fehlende oder sehr wenige B-Zellen durch Veränderungen in Genen des B-Zell-Rezeptor-Signalwegs, etwa IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 und TCF3.", "management": "Eine lebenslange Immunglobulin-Substitution, die rasche Behandlung von Infektionen und der Verzicht auf Lebendimpfstoffe verhindern die meisten schweren Komplikationen.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/agammaglobulinemia" }, { "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": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "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": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/de/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-pinna-morphology", "name": "Abnormally shaped ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-pinna-morphology" }, { "slug": "agammaglobulinemia", "name": "Agammaglobulinemia", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/agammaglobulinemia" }, { "slug": "arthritis", "name": "Arthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arthritis" }, { "slug": "cellulitis", "name": "Bacterial infection of skin", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cellulitis" }, { "slug": "osteomyelitis", "name": "Bone infection", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteomyelitis" }, { "slug": "chronic-otitis-media", "name": "Chronic infections of the middle ear", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/chronic-otitis-media" }, { "slug": "chronic-sinusitis", "name": "Chronic sinus disease", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-sinusitis" }, { "slug": "cough", "name": "Cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cough" }, { "slug": "decreased-circulating-iga-concentration", "name": "Decreased circulating IgA concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration" }, { "slug": "decreased-circulating-igg-concentration", "name": "Decreased circulating IgG concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration" }, { "slug": "decreased-circulating-igm-concentration", "name": "Decreased circulating IgM concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration" }, { "slug": "immunodeficiency", "name": "Decreased immune function", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/immunodeficiency" }, { "slug": "dehydration", "name": "Dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dehydration" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fever" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "sepsis", "name": "Infection in blood stream", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sepsis" }, { "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-total-b-cell-count", "name": "Low B cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-b-cell-count" }, { "slug": "decreased-total-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count" }, { "slug": "malabsorption", "name": "Malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/malabsorption" }, { "slug": "meningitis", "name": "Meningitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/meningitis" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "conjunctivitis", "name": "Pink eye", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/conjunctivitis" }, { "slug": "recurrent-bacterial-infections", "name": "Recurrent bacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-bacterial-infections" }, { "slug": "recurrent-bronchitis", "name": "Recurrent bronchitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-bronchitis" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "recurrent-otitis-media", "name": "Recurrent middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-otitis-media" }, { "slug": "recurrent-pneumonia", "name": "Recurrent pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-pneumonia" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "recurrent-skin-infections", "name": "Recurrent skin infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/recurrent-skin-infections" }, { "slug": "sinusitis", "name": "Sinus disease", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sinusitis" }, { "slug": "skin-rash", "name": "Skin rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skin-rash" }, { "slug": "verrucae", "name": "Warts", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/verrucae" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 3, "url": "https://dantelabs.com/de/genes/blnk" }, { "slug": "cd79a", "symbol": "CD79A", "name": "CD79a molecule", "shared": 3, "url": "https://dantelabs.com/de/genes/cd79a" }, { "slug": "ighm", "symbol": "IGHM", "name": "immunoglobulin heavy constant mu", "shared": 3, "url": "https://dantelabs.com/de/genes/ighm" }, { "slug": "igll1", "symbol": "IGLL1", "name": "immunoglobulin lambda like polypeptide 1", "shared": 3, "url": "https://dantelabs.com/de/genes/igll1" }, { "slug": "pik3r1", "symbol": "PIK3R1", "name": "phosphoinositide-3-kinase regulatory subunit 1", "shared": 3, "url": "https://dantelabs.com/de/genes/pik3r1" }, { "slug": "tcf3", "symbol": "TCF3", "name": "transcription factor 3", "shared": 3, "url": "https://dantelabs.com/de/genes/tcf3" }, { "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": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/de/genes/btk" }, { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 2, "url": "https://dantelabs.com/de/genes/c1qa" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }