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"slug": "polr1g" }, { "symbol": "ERCC1", "ensemblId": "ENSG00000012061", "biotype": "protein_coding", "start": 45407333, "end": 45479055, "strand": "-", "slug": "ercc1" }, { "symbol": "FOSB", "ensemblId": "ENSG00000125740", "biotype": "protein_coding", "start": 45467989, "end": 45475179, "strand": "+", "slug": "fosb" }, { "symbol": "RTN2", "ensemblId": "ENSG00000125744", "biotype": "protein_coding", "start": 45485292, "end": 45497055, "strand": "-", "slug": "rtn2" }, { "symbol": "PPM1N", "ensemblId": "ENSG00000213889", "biotype": "protein_coding", "start": 45488777, "end": 45503129, "strand": "+", "slug": "ppm1n" }, { "symbol": "VASP", "ensemblId": "ENSG00000125753", "biotype": "protein_coding", "start": 45506579, "end": 45527839, "strand": "+", "slug": "vasp" } ], "truncated": false }, "reports": [ { "slug": "immunodeficiency-disease", "name": "Other Inborn Errors of Immunity", "diseases": [ { "mondoId": "MONDO:0021094", "name": "Immunodeficiency Disease", "genes": 170, "inheritance": null, "description": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.", "management": "HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD", "evidence": { "gencc": [ "ClinGen", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "asthma", "name": "Asthma", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/asthma" }, { "slug": "chronic-cough", "name": "Chronic cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-cough" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "slug": "impaired-phytohemagglutinin-induced-t-lymphocyte-transformation", "name": "Impaired phytohemagglutinin-induced T lymphocyte transformation", "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/impaired-phytohemagglutinin-induced-t-lymphocyte-transformation" }, { "slug": "increased-total-neutrophil-count", "name": "Increased blood neutrophil counts", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-total-neutrophil-count" }, { "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": "frequent", "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-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-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": "skin-rash", "name": "Skin rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skin-rash" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 1, "url": "https://dantelabs.com/genes/ada" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 1, "url": "https://dantelabs.com/genes/aicda" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 1, "url": "https://dantelabs.com/genes/ak2" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/genes/arpc1b" }, { "slug": "arpc5", "symbol": "ARPC5", "name": "actin related protein 2/3 complex subunit 5", "shared": 1, "url": "https://dantelabs.com/genes/arpc5" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/genes/atm" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/genes/atp6ap1" }, { "slug": "b2m", "symbol": "B2M", "name": "beta-2-microglobulin", "shared": 1, "url": "https://dantelabs.com/genes/b2m" }, { "slug": "bach2", "symbol": "BACH2", "name": "BACH transcriptional regulator 2", "shared": 1, "url": "https://dantelabs.com/genes/bach2" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 1, "url": "https://dantelabs.com/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 1, "url": "https://dantelabs.com/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 1, "url": "https://dantelabs.com/genes/blnk" } ], "sources": { "bundleId": "2026.10.18-e609d43e", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }