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"start": 6873455, "end": 6914243, "strand": "+", "slug": "lrrc23" }, { "symbol": "ENO2", "ensemblId": "ENSG00000111674", "biotype": "protein_coding", "start": 6913745, "end": 6923970, "strand": "+", "slug": "eno2" }, { "symbol": "ATN1", "ensemblId": "ENSG00000111676", "biotype": "protein_coding", "start": 6924454, "end": 6942322, "strand": "+", "slug": "atn1" }, { "symbol": "C12orf57", "ensemblId": "ENSG00000111678", "biotype": "protein_coding", "start": 6942919, "end": 6946009, "strand": "+", "slug": "c12orf57" }, { "symbol": "RNU7-1", "ensemblId": "ENSG00000238923", "biotype": "other", "start": 6943816, "end": 6943878, "strand": "+", "slug": "rnu7-1" }, { "symbol": "PTPN6", "ensemblId": "ENSG00000111679", "biotype": "protein_coding", "start": 6946417, "end": 6961316, "strand": "+", "slug": "ptpn6" } ], "truncated": false }, "reports": [ { "slug": "ebv-lymphoproliferation-and-card11-immune-dysregulation", "name": "EBV-Driven Lymphoproliferation and CARD11 Immune Dysregulation", "diseases": [ { "mondoId": "MONDO:0014054", "name": "CD27 deficiency", "genes": 1, "inheritance": "autosomal-recessive", "description": "Caused by changes in CD27, it leads to persistent EBV infection, overgrowth of lymphocytes and a risk of lymphoma and hemophagocytic lymphohistiocytosis.", "management": "Monitoring for EBV and lymphoma allows early treatment, and a stem cell transplant may be considered.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/ebv-lymphoproliferation-and-card11-immune-dysregulation" }, { "slug": "immunodeficiency-disease", "name": "Other Inborn Errors of Immunity", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Inborn error of immunity", "genes": 114, "inheritance": null, "description": "Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ascites", "name": "Accumulation of fluid in the abdomen", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ascites" }, { "slug": "aplastic-anemia", "name": "Aplastic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplastic-anemia" }, { "slug": "lymphoma", "name": "Cancer of lymphatic system", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphoma" }, { "slug": "decreased-circulating-immunoglobulin-concentration", "name": "Decreased circulating antibody level", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration" }, { "slug": "decreased-mitogen-induced-t-cell-proliferation", "name": "Decreased mitogen-induced T-cell proliferation", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-mitogen-induced-t-cell-proliferation" }, { "slug": "ebv-encephalitis", "name": "EBV encephalitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ebv-encephalitis" }, { "slug": "ebv-meningitis", "name": "EBV meningitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ebv-meningitis" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fever" }, { "slug": "hemophagocytosis", "name": "Hemophagocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemophagocytosis" }, { "slug": "hodgkin-lymphoma", "name": "Hodgkin lymphoma", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hodgkin-lymphoma" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "sepsis", "name": "Infection in blood stream", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sepsis" }, { "slug": "pancytopenia", "name": "Low blood cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancytopenia" }, { "slug": "lymphoproliferative-disorder", "name": "Lymphoproliferative disorder", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lymphoproliferative-disorder" }, { "slug": "oral-ulcer", "name": "Mouth sore", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oral-ulcer" }, { "slug": "persistent-ebv-viremia", "name": "Persistent EBV viremia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/persistent-ebv-viremia" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-infections" }, { "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": "severe-varicella-zoster-infection", "name": "Severe varicella zoster infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/severe-varicella-zoster-infection" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lymphadenopathy" }, { "slug": "uveitis", "name": "Uveitis", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/uveitis" } ], "related": [ { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/genes/adar" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 1, "url": "https://dantelabs.com/genes/aicda" }, { "slug": "ap3b1", "symbol": "AP3B1", "name": "adaptor related protein complex 3 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/genes/ap3b1" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/genes/atp6ap1" }, { "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" }, { "slug": "bloc1s6", "symbol": "BLOC1S6", "name": "biogenesis of lysosomal organelles complex 1 subunit 6", "shared": 1, "url": "https://dantelabs.com/genes/bloc1s6" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 1, "url": "https://dantelabs.com/genes/btk" }, { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 1, "url": "https://dantelabs.com/genes/c1qa" }, { "slug": "c1qb", "symbol": "C1QB", "name": "complement C1q B chain", "shared": 1, "url": "https://dantelabs.com/genes/c1qb" }, { "slug": "c1qc", "symbol": "C1QC", "name": "complement C1q C chain", "shared": 1, "url": "https://dantelabs.com/genes/c1qc" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }