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177996242, "strand": "-", "slug": "prop1" }, { "symbol": "FAM153CP", "ensemblId": "ENSG00000204677", "biotype": "protein_coding", "start": 178006348, "end": 178086529, "strand": "+", "slug": "fam153cp" } ], "truncated": false }, "reports": [ { "slug": "germline-predisposition-myeloid-malignancy", "name": "Arvelig predisposisjon for myeloide blodkreftformer", "diseases": [ { "mondoId": "MONDO:0014809", "name": "Predisposisjon for hematologiske maligniteter knyttet til DDX41", "genes": 1, "inheritance": "autosomal-dominant", "description": "DDX41-varianter som øker risikoen for myelodysplastisk syndrom og akutt myeloid leukemi, vanligvis i senere voksen alder.", "management": "Overvåking av blodverdier, og testing av relaterte donorer før en stamcelletransplantasjon.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/no/conditions/germline-predisposition-myeloid-malignancy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "acute-myeloid-leukemia", "name": "Acute myeloid leukemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system", "neoplasm" ], "url": "https://dantelabs.com/traits/acute-myeloid-leukemia" }, { "slug": "asthma", "name": "Asthma", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/asthma" }, { "slug": "bone-marrow-hypocellularity", "name": "Bone marrow failure", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity" }, { "slug": "lymphoma", "name": "Cancer of lymphatic system", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "url": "https://dantelabs.com/traits/lymphoma" }, { "slug": "decreased-total-leukocyte-count", "name": "Decreased blood leukocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count" }, { "slug": "eczematoid-dermatitis", "name": "Eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/eczematoid-dermatitis" }, { "slug": "erythroid-dysplasia", "name": "Erythroid dysplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/erythroid-dysplasia" }, { "slug": "increased-total-monocyte-count", "name": "High blood monocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/increased-total-monocyte-count" }, { "slug": "myelodysplasia", "name": "Myelodysplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "url": "https://dantelabs.com/traits/myelodysplasia" }, { "slug": "refractory-anemia", "name": "Refractory anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/refractory-anemia" }, { "slug": "systemic-lupus-erythematosus", "name": "Systemic lupus erythematosus", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/systemic-lupus-erythematosus" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }