{ "url": "https://dantelabs.com/pt/genes/znf341", "gene": { "slug": "znf341", "symbol": "ZNF341", "name": "zinc finger protein 341", "hgnc": "HGNC:15992", "summary": null, "location": "20q11.22", "locusType": "gene with protein product", "aliases": [ "dJ553F4.3" ], "previousSymbols": [], "ensemblId": "ENSG00000131061", "entrezId": 84905, "omim": [ "618269" ], "uniprot": [ "Q9BYN7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 33731996, "end": 33792269, "strand": "+", "ensemblTranscript": "ENST00000375200.6", "refseqTranscript": "NM_001282933.2", "ensemblProtein": "ENSP00000364346.1", "refseqProtein": "NP_001269862.1", "exons": [ { "start": 33731996, "end": 33732052 }, { "start": 33740902, "end": 33741012 }, { "start": 33745103, "end": 33745299 }, { "start": 33748923, "end": 33749072 }, { "start": 33753172, "end": 33753423 }, { "start": 33757148, "end": 33757343 }, { "start": 33758716, "end": 33758806 }, { "start": 33761862, "end": 33762055 }, { "start": 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"start": 33811253, "end": 33854366, "strand": "+", "slug": "chmp4b" }, { "symbol": "RALY", "ensemblId": "ENSG00000125970", "biotype": "protein_coding", "start": 33993632, "end": 34108308, "strand": "+", "slug": "raly" }, { "symbol": "EIF2S2", "ensemblId": "ENSG00000125977", "biotype": "protein_coding", "start": 34088309, "end": 34112284, "strand": "-", "slug": "eif2s2" }, { "symbol": "ASIP", "ensemblId": "ENSG00000101440", "biotype": "protein_coding", "start": 34194569, "end": 34269346, "strand": "+", "slug": "asip" } ], "truncated": false }, "reports": [ { "slug": "hyper-ige-syndrome", "name": "Síndrome de Hiper-IgE", "diseases": [ { "mondoId": "MONDO:0018037", "name": "Síndrome de hiper-IgE", "genes": 7, "inheritance": null, "description": "Uma condição caracterizada por níveis elevados de IgE no soro, dermatite e infeções respiratórias.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/hyper-ige-syndrome" }, { "slug": "immunodeficiency-disease", "name": "Outros Erros Inatos da Imunidade", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Erro inato da imunidade", "genes": 114, "inheritance": null, "description": "Doenças hereditárias do sistema imunitário causadas por alterações em genes individuais, que afetam a forma como o organismo combate infeções ou regula a inflamação.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true }, { "mondoId": "MONDO:0021094", "name": "Doença de Imunodeficiência", "genes": 170, "inheritance": null, "description": "Doença em que existe uma deficiência ou defeito nos mecanismos da imunidade, quer celular quer humoral.", "management": "Transplante de células-tronco hematopoiéticas (HSCT) para SCID e PID graves; substituição de imunoglobulinas (IVIG/SCIG) para deficiências de anticorpos; leniolisib (Joenja, FDA 2023) para APDS; terapia génica para SCID-ADA; abatacept para deficiência de CTLA4/LRBA; antibióticos profiláticos; G-CSF para CGD", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pt/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-the-dentition", "name": "Abnormal dentition", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/abnormality-of-the-dentition" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "atopic-dermatitis", "name": "Baby eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/atopic-dermatitis" }, { "slug": "osteomyelitis", "name": "Bone infection", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteomyelitis" }, { "slug": "recurrent-oral-thrush", "name": "Chronic oral thrush", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-oral-thrush" }, { "slug": "decreased-circulating-iga-concentration", "name": "Decreased circulating IgA concentration", "systems": [ 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"https://dantelabs.com/traits/alopecia" }, { "slug": "increased-total-eosinophil-count", "name": "High blood eosinophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-total-eosinophil-count" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "increased-circulating-ige-concentration", "name": "Increased circulating IgE concentration", "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/increased-circulating-ige-concentration" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "methicillin-resistant-staphylococcus-aureus-infection", "name": "Methicillin-resistant Staphylococcus aureus infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/methicillin-resistant-staphylococcus-aureus-infection" }, { "slug": "spinal-canal-stenosis", "name": "Narrow spinal canal", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spinal-canal-stenosis" }, { "slug": "pulmonic-stenosis", "name": "Narrowing of pulmonic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonic-stenosis" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "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": "frequent", "url": "https://dantelabs.com/traits/recurrent-otitis-media" }, { "slug": "recurrent-mucocutaneous-candidiasis", "name": "Recurrent mucocutaneous candidiasis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/recurrent-mucocutaneous-candidiasis" }, { "slug": "recurrent-pneumonia", "name": "Recurrent pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "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" ], "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "recurrent-sinusitis", "name": "Recurrent sinus disease", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-sinusitis" }, { "slug": "recurrent-skin-infections", "name": "Recurrent skin infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-skin-infections" }, { "slug": "cutaneous-abscess", "name": "Skin abscess", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cutaneous-abscess" }, { "slug": "sterile-abscess", "name": "Sterile abscess", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sterile-abscess" }, { "slug": "wide-nose", "name": "Wide nose", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/wide-nose" } ], "related": [ { "slug": "dock8", "symbol": "DOCK8", "name": "dedicator of cytokinesis 8", "shared": 3, "url": "https://dantelabs.com/pt/genes/dock8" }, { "slug": "il6r", "symbol": "IL6R", "name": "interleukin 6 receptor", "shared": 3, "url": "https://dantelabs.com/pt/genes/il6r" }, { "slug": "il6st", "symbol": "IL6ST", "name": "interleukin 6 cytokine family signal transducer", "shared": 3, "url": "https://dantelabs.com/pt/genes/il6st" }, { "slug": "spink5", "symbol": "SPINK5", "name": "serine peptidase inhibitor Kazal type 5", "shared": 3, "url": "https://dantelabs.com/pt/genes/spink5" }, { "slug": "stat3", "symbol": "STAT3", "name": "signal transducer and activator of transcription 3", "shared": 3, "url": "https://dantelabs.com/pt/genes/stat3" }, { "slug": "stat6", "symbol": "STAT6", "name": "signal transducer and activator of transcription 6", "shared": 3, "url": "https://dantelabs.com/pt/genes/stat6" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/pt/genes/aicda" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/pt/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/pt/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/pt/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 2, "url": "https://dantelabs.com/pt/genes/blnk" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/pt/genes/btk" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }