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"symbol": "STK40", "ensemblId": "ENSG00000196182", "biotype": "protein_coding", "start": 36339620, "end": 36385932, "strand": "-", "slug": "stk40" }, { "symbol": "LSM10", "ensemblId": "ENSG00000181817", "biotype": "protein_coding", "start": 36388814, "end": 36397945, "strand": "-", "slug": "lsm10" }, { "symbol": "OSCP1", "ensemblId": "ENSG00000116885", "biotype": "protein_coding", "start": 36415273, "end": 36450491, "strand": "-", "slug": "oscp1" }, { "symbol": "MRPS15", "ensemblId": "ENSG00000116898", "biotype": "protein_coding", "start": 36455718, "end": 36464418, "strand": "-", "slug": "mrps15" }, { "symbol": "GRIK3", "ensemblId": "ENSG00000163873", "biotype": "protein_coding", "start": 36795527, "end": 37034533, "strand": "-", "slug": "grik3" } ], "truncated": false }, "reports": [ { "slug": "severe-congenital-neutropenia", "name": "중증 선천성 호중구감소증", "diseases": [ { "mondoId": "MONDO:0018542", "name": "중증 선천성 호중구감소증", "genes": 10, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/severe-congenital-neutropenia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "elevated-leukocyte-alkaline-phosphatase", "name": "Elevated leukocyte alkaline phosphatase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-leukocyte-alkaline-phosphatase" }, { "slug": "granulocytic-hyperplasia", "name": "Granulocytic hyperplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/granulocytic-hyperplasia" }, { "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": "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": "myelodysplasia", "name": "Myelodysplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myelodysplasia" }, { "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/ko/genes/clpb" }, { "slug": "cxcr2", "symbol": "CXCR2", "name": "C-X-C motif chemokine receptor 2", "shared": 1, "url": "https://dantelabs.com/ko/genes/cxcr2" }, { "slug": "g6pc3", "symbol": "G6PC3", "name": "glucose-6-phosphatase catalytic subunit 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/g6pc3" }, { "slug": "gfi1", "symbol": "GFI1", "name": "growth factor independent 1 transcriptional repressor", "shared": 1, "url": "https://dantelabs.com/ko/genes/gfi1" }, { "slug": "hax1", "symbol": "HAX1", "name": "HCLS1 associated protein X-1", "shared": 1, "url": "https://dantelabs.com/ko/genes/hax1" }, { "slug": "jagn1", "symbol": "JAGN1", "name": "jagunal vesicle mediated transporter 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/jagn1" }, { "slug": "srp54", "symbol": "SRP54", "name": "signal recognition particle 54", "shared": 1, "url": "https://dantelabs.com/ko/genes/srp54" }, { "slug": "vps45", "symbol": "VPS45", "name": "vacuolar protein sorting 45 homolog", "shared": 1, "url": "https://dantelabs.com/ko/genes/vps45" }, { "slug": "was", "symbol": "WAS", "name": "WASP actin nucleation promoting factor", "shared": 1, "url": "https://dantelabs.com/ko/genes/was" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }