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arthritis, caused by variants in PTPN2.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/cs/conditions/rare-monogenic-autoinflammatory-diseases" }, { "slug": "type-1-interferonopathies", "name": "Type I Interferonopathies", "diseases": [ { "mondoId": "MONDO:0014629", "name": "COPA syndrome", "genes": 1, "inheritance": "autosomal-dominant", "description": "Lung disease with bleeding or interstitial changes, arthritis and kidney inflammation caused by variants in COPA.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/cs/conditions/type-1-interferonopathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": 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"abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-hemorrhage" }, { "slug": "restrictive-ventilatory-defect", "name": "Stiff lung or chest wall causing decreased lung volume", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect" } ], "related": [ { "slug": "acp5", "symbol": "ACP5", "name": "acid phosphatase 5, tartrate resistant", "shared": 1, "url": "https://dantelabs.com/cs/genes/acp5" }, { "slug": "ada2", "symbol": "ADA2", "name": "adenosine deaminase 2", "shared": 1, "url": "https://dantelabs.com/cs/genes/ada2" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/cs/genes/adar" }, { "slug": "ifih1", "symbol": "IFIH1", "name": "interferon induced with helicase C domain 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/ifih1" }, { "slug": "pola1", "symbol": "POLA1", "name": "DNA polymerase alpha 1, catalytic subunit", "shared": 1, "url": "https://dantelabs.com/cs/genes/pola1" }, { "slug": "pomp", "symbol": "POMP", "name": "proteasome maturation protein", "shared": 1, "url": "https://dantelabs.com/cs/genes/pomp" }, { "slug": "psmb10", "symbol": "PSMB10", "name": "proteasome 20S subunit beta 10", "shared": 1, "url": "https://dantelabs.com/cs/genes/psmb10" }, { "slug": "psmb8", "symbol": "PSMB8", "name": "proteasome 20S subunit beta 8", "shared": 1, "url": "https://dantelabs.com/cs/genes/psmb8" }, { "slug": "psmb9", "symbol": "PSMB9", "name": "proteasome 20S subunit beta 9", "shared": 1, "url": "https://dantelabs.com/cs/genes/psmb9" }, { "slug": "ptpn2", "symbol": "PTPN2", "name": "protein tyrosine phosphatase non-receptor type 2", "shared": 1, "url": "https://dantelabs.com/cs/genes/ptpn2" }, { "slug": "rigi", "symbol": "RIGI", "name": "RNA sensor RIG-I", "shared": 1, "url": "https://dantelabs.com/cs/genes/rigi" }, { "slug": "rnaseh2a", "symbol": "RNASEH2A", "name": "ribonuclease H2 subunit A", "shared": 1, "url": "https://dantelabs.com/cs/genes/rnaseh2a" } ], "sources": { "bundleId": "2026.10.18-e609d43e", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }