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"end": 119337309, "strand": "+", "slug": "rnf26" }, { "symbol": "C1QTNF5", "ensemblId": "ENSG00000223953", "biotype": "protein_coding", "start": 119338942, "end": 119340940, "strand": "-", "slug": "c1qtnf5" }, { "symbol": "MFRP", "ensemblId": "ENSG00000235718", "biotype": "protein_coding", "start": 119338942, "end": 119346705, "strand": "-", "slug": "mfrp" }, { "symbol": "USP2", "ensemblId": "ENSG00000036672", "biotype": "protein_coding", "start": 119355215, "end": 119381720, "strand": "-", "slug": "usp2" }, { "symbol": "THY1", "ensemblId": "ENSG00000154096", "biotype": "protein_coding", "start": 119415476, "end": 119424985, "strand": "-", "slug": "thy1" } ], "truncated": false }, "reports": [ { "slug": "immunodeficiency-disease", "name": "Sonstige angeborene Immundefekte", "diseases": [ { "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": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/de/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "acne-inversa", "name": "Acne inversa", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/acne-inversa" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "complete-or-near-complete-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide", "name": "Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/complete-or-near-complete-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide" }, { "slug": "decreased-class-switched-memory-b-cell-proportion", "name": "Decreased class-switched memory B cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-class-switched-memory-b-cell-proportion" }, { "slug": "immunodeficiency", "name": "Decreased immune function", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/immunodeficiency" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "high-anterior-hairline", "name": "High frontal hairline", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-anterior-hairline" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "hsv-encephalitis", "name": "HSV encephalitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hsv-encephalitis" }, { "slug": "sepsis", "name": "Infection in blood stream", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sepsis" }, { "slug": "arteritis", "name": "Inflammation of artery", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/arteritis" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "malabsorption", "name": "Malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/malabsorption" }, { "slug": "narrow-face", "name": "Narrow face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-face" }, { "slug": "narrow-nose", "name": 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"https://dantelabs.com/traits/recurrent-aphthous-stomatitis" }, { "slug": "recurrent-lower-respiratory-tract-infections", "name": "Recurrent chest infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections" }, { "slug": "recurrent-upper-respiratory-tract-infections", "name": "Recurrent colds", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections" }, { "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": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "slender-finger", "name": "Slender finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/slender-finger" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/wide-nasal-bridge" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 1, "url": "https://dantelabs.com/de/genes/ada" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 1, "url": "https://dantelabs.com/de/genes/aicda" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 1, "url": "https://dantelabs.com/de/genes/ak2" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/de/genes/arpc1b" }, { "slug": "arpc5", "symbol": "ARPC5", "name": "actin related protein 2/3 complex subunit 5", "shared": 1, "url": "https://dantelabs.com/de/genes/arpc5" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/de/genes/atm" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/de/genes/atp6ap1" }, { "slug": "b2m", "symbol": "B2M", "name": "beta-2-microglobulin", "shared": 1, "url": "https://dantelabs.com/de/genes/b2m" }, { "slug": "bach2", "symbol": "BACH2", "name": "BACH transcriptional regulator 2", "shared": 1, "url": "https://dantelabs.com/de/genes/bach2" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 1, "url": "https://dantelabs.com/de/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 1, "url": "https://dantelabs.com/de/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 1, "url": "https://dantelabs.com/de/genes/blnk" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }