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"biotype": "protein_coding", "start": 150549369, "end": 150560937, "strand": "+", "slug": "adamtsl4" }, { "symbol": "MCL1", "ensemblId": "ENSG00000143384", "biotype": "protein_coding", "start": 150560895, "end": 150579738, "strand": "-", "slug": "mcl1" }, { "symbol": "ENSA", "ensemblId": "ENSG00000143420", "biotype": "protein_coding", "start": 150599671, "end": 150629633, "strand": "-", "slug": "ensa" } ], "truncated": false }, "reports": [ { "slug": "severe-congenital-neutropenia", "name": "Neutropénie congénitale sévère", "diseases": [ { "mondoId": "MONDO:0018542", "name": "Neutropénie congénitale sévère", "genes": 10, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/severe-congenital-neutropenia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "decreased-total-leukocyte-count", "name": "Decreased blood leukocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count" }, { "slug": "enlarged-kidney", "name": "Enlarged kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/enlarged-kidney" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "extramedullary-hematopoiesis", "name": "Extramedullary hematopoiesis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/extramedullary-hematopoiesis" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "increased-circulating-immunoglobulin-concentration", "name": "Increased antibody level in blood", "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/increased-circulating-immunoglobulin-concentration" }, { "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": "decreased-total-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-infections" } ], "related": [ { "slug": "clpb", "symbol": "CLPB", "name": "ClpB family mitochondrial disaggregase", "shared": 1, "url": "https://dantelabs.com/fr/genes/clpb" }, { "slug": "csf3r", "symbol": "CSF3R", "name": "colony stimulating factor 3 receptor", "shared": 1, "url": "https://dantelabs.com/fr/genes/csf3r" }, { "slug": "cxcr2", "symbol": "CXCR2", "name": "C-X-C motif chemokine receptor 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/cxcr2" }, { "slug": "g6pc3", "symbol": "G6PC3", "name": "glucose-6-phosphatase catalytic subunit 3", "shared": 1, "url": "https://dantelabs.com/fr/genes/g6pc3" }, { "slug": "gfi1", "symbol": "GFI1", "name": "growth factor independent 1 transcriptional repressor", "shared": 1, "url": "https://dantelabs.com/fr/genes/gfi1" }, { "slug": "hax1", "symbol": "HAX1", "name": "HCLS1 associated protein X-1", "shared": 1, "url": "https://dantelabs.com/fr/genes/hax1" }, { "slug": "jagn1", "symbol": "JAGN1", "name": "jagunal vesicle mediated transporter 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/jagn1" }, { "slug": "srp54", "symbol": "SRP54", "name": "signal recognition particle 54", "shared": 1, "url": "https://dantelabs.com/fr/genes/srp54" }, { "slug": "was", "symbol": "WAS", "name": "WASP actin nucleation promoting factor", "shared": 1, "url": "https://dantelabs.com/fr/genes/was" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }