{ "url": "https://dantelabs.com/es/genes/blnk", "gene": { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "hgnc": "HGNC:14211", "summary": null, "location": "10q24.1", "locusType": "gene with protein product", "aliases": [ "SLP65", "Ly57", "SLP-65", "BLNK-s", "BASH", "bca" ], "previousSymbols": [], "ensemblId": "ENSG00000095585", "entrezId": 29760, "omim": [ "604515" ], "uniprot": [ "Q8WV28" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 96189171, "end": 96271569, "strand": "-", "ensemblTranscript": "ENST00000224337.10", "refseqTranscript": "NM_013314.4", "ensemblProtein": "ENSP00000224337.6", "refseqProtein": "NP_037446.1", "exons": [ { "start": 96189171, "end": 96192092 }, { "start": 96196908, "end": 96197063 }, { "start": 96200075, "end": 96200158 }, { "start": 96200982, "end": 96201058 }, { "start": 96204057, "end": 96204088 }, { "start": 96204532, "end": 96204616 }, { "start": 96207011, "end": 96207053 }, { "start": 96207872, "end": 96207899 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"end": 96033745, "strand": "+", "slug": "cc2d2b" }, { "symbol": "CCNJ", "ensemblId": "ENSG00000107443", "biotype": "protein_coding", "start": 96043053, "end": 96060870, "strand": "+", "slug": "ccnj" }, { "symbol": "ZNF518A", "ensemblId": "ENSG00000177853", "biotype": "protein_coding", "start": 96129695, "end": 96205288, "strand": "+", "slug": "znf518a" }, { "symbol": "DNTT", "ensemblId": "ENSG00000107447", "biotype": "protein_coding", "start": 96304409, "end": 96338564, "strand": "+", "slug": "dntt" }, { "symbol": "OPALIN", "ensemblId": "ENSG00000197430", "biotype": "protein_coding", "start": 96343216, "end": 96359365, "strand": "-", "slug": "opalin" }, { "symbol": "TLL2", "ensemblId": "ENSG00000095587", "biotype": "protein_coding", "start": 96364608, "end": 96513958, "strand": "-", "slug": "tll2" }, { "symbol": "TM9SF3", "ensemblId": "ENSG00000077147", "biotype": "protein_coding", "start": 96518110, "end": 96587452, "strand": "-", "slug": "tm9sf3" }, { "symbol": "PIK3AP1", "ensemblId": "ENSG00000155629", "biotype": "protein_coding", "start": 96591882, "end": 96720902, "strand": "-", "slug": "pik3ap1" } ], "truncated": false }, "reports": [ { "slug": "agammaglobulinemia", "name": "Agammaglobulinemia (formas ligadas al cromosoma X y autosómicas)", "diseases": [ { "mondoId": "MONDO:0011096", "name": "Agammaglobulinemia autosómica", "genes": 7, "inheritance": null, "description": "Ausencia o muy escasez de linfocitos B causada por alteraciones en genes de la vía del receptor de linfocitos B, como IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 y TCF3.", "management": "El tratamiento sustitutivo de inmunoglobulinas de por vida, el tratamiento rápido de las infecciones y evitar las vacunas de virus vivos previenen la mayoría de las complicaciones graves.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "LiferaOmics", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/es/conditions/agammaglobulinemia" }, { "slug": "immunodeficiency-disease", "name": "Otros errores innatos de la inmunidad", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Inmunodeficiencia primaria", "genes": 114, "inheritance": null, "description": "Trastornos hereditarios del sistema inmunitario causados por cambios en genes individuales, que afectan a la forma en que el organismo combate las infecciones o regula la inflamación.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "LiferaOmics", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true }, { "mondoId": "MONDO:0021094", "name": "Enfermedad por inmunodeficiencia", "genes": 170, "inheritance": null, "description": "Enfermedad en la que existe una deficiencia o un defecto en los mecanismos inmunitarios, ya sean celulares o humorales.", "management": "TCMH para la IDCG y las IDP graves; terapia sustitutiva con inmunoglobulinas (IVIG/SCIG) para las deficiencias de anticuerpos; leniolisib (Joenja, FDA 2023) para el APDS; terapia génica para la IDCG por deficiencia de ADA; abatacept para la deficiencia de CTLA4/LRBA; profilaxis antibiótica; G-CSF para la EGC", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "LiferaOmics", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/es/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": "very-frequent", "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-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "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": "very-frequent", "url": "https://dantelabs.com/traits/conjunctivitis" }, { "slug": "protein-losing-enteropathy", "name": "Protein-losing enteropathy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/protein-losing-enteropathy" }, { "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-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": "cd79a", "symbol": "CD79A", "name": "CD79a molecule", "shared": 3, "url": "https://dantelabs.com/es/genes/cd79a" }, { "slug": "cd79b", "symbol": "CD79B", "name": "CD79b molecule", "shared": 3, "url": "https://dantelabs.com/es/genes/cd79b" }, { "slug": "ighm", "symbol": "IGHM", "name": "immunoglobulin heavy constant mu", "shared": 3, "url": "https://dantelabs.com/es/genes/ighm" }, { "slug": "igll1", "symbol": "IGLL1", "name": "immunoglobulin lambda like polypeptide 1", "shared": 3, "url": "https://dantelabs.com/es/genes/igll1" }, { "slug": "pik3r1", "symbol": "PIK3R1", "name": "phosphoinositide-3-kinase regulatory subunit 1", "shared": 3, "url": "https://dantelabs.com/es/genes/pik3r1" }, { "slug": "tcf3", "symbol": "TCF3", "name": "transcription factor 3", "shared": 3, "url": "https://dantelabs.com/es/genes/tcf3" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/es/genes/aicda" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/es/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/es/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/es/genes/bcl11b" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/es/genes/btk" }, { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 2, "url": "https://dantelabs.com/es/genes/c1qa" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }