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"slug": "lrrc45" }, { "symbol": "RAC3", "ensemblId": "ENSG00000169750", "biotype": "protein_coding", "start": 82031192, "end": 82034218, "strand": "+", "slug": "rac3" }, { "symbol": "DCXR", "ensemblId": "ENSG00000169738", "biotype": "protein_coding", "start": 82035136, "end": 82037777, "strand": "-", "slug": "dcxr" }, { "symbol": "RFNG", "ensemblId": "ENSG00000169733", "biotype": "protein_coding", "start": 82047902, "end": 82051871, "strand": "-", "slug": "rfng" }, { "symbol": "GPS1", "ensemblId": "ENSG00000169727", "biotype": "protein_coding", "start": 82050691, "end": 82058063, "strand": "+", "slug": "gps1" }, { "symbol": "DUS1L", "ensemblId": "ENSG00000169718", "biotype": "protein_coding", "start": 82057506, "end": 82066206, "strand": "-", "slug": "dus1l" }, { "symbol": "FASN", "ensemblId": "ENSG00000169710", "biotype": "protein_coding", "start": 82076900, "end": 82098294, "strand": "-", "slug": "fasn" }, { "symbol": "CCDC57", "ensemblId": "ENSG00000176155", "biotype": "protein_coding", "start": 82101458, "end": 82212885, "strand": "-", "slug": "ccdc57" }, { "symbol": "SLC16A3", "ensemblId": "ENSG00000141526", "biotype": "protein_coding", "start": 82217878, "end": 82261176, "strand": "+", "slug": "slc16a3" }, { "symbol": "CSNK1D", "ensemblId": "ENSG00000141551", "biotype": "protein_coding", "start": 82239023, "end": 82273730, "strand": "-", "slug": "csnk1d" }, { "symbol": "CD7", "ensemblId": "ENSG00000173762", "biotype": "protein_coding", "start": 82313564, "end": 82317625, "strand": "-", "slug": "cd7" }, { "symbol": "SECTM1", "ensemblId": "ENSG00000141574", "biotype": "protein_coding", "start": 82321024, "end": 82335518, "strand": "-", "slug": "sectm1" } ], "truncated": false }, "reports": [ { "slug": "osteogenesis-imperfecta", "name": "Osteogenesis Imperfecta", "diseases": [ { "mondoId": "MONDO:0019019", "name": "Osteogenesis Imperfecta", "genes": 34, "inheritance": null, "description": "A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.", "management": "Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/osteogenesis-imperfecta" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "skeletal-dysplasia", "name": "Abnormal skeletal development", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skeletal-dysplasia" }, { "slug": "abnormal-dental-enamel-morphology", "name": "Abnormal tooth enamel", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-dental-enamel-morphology" }, { "slug": "abnormal-vertebral-body-morphology", "name": "Abnormal vertebral body morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology" }, { "slug": "abnormal-rib-morphology", "name": "Abnormality of the ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-rib-morphology" }, { "slug": "abnormality-of-the-voice", "name": "Abnormality of the voice", "systems": [], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-voice" }, { "slug": "abnormal-metaphysis-morphology", "name": "Abnormality of the wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology" }, { "slug": "blue-sclerae", "name": "Blue outer white part of eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/blue-sclerae" }, { "slug": "bowing-of-the-long-bones", "name": "Bowing of the long bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bowing-of-the-long-bones" }, { "slug": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "communicating-hydrocephalus", "name": "Communicating hydrocephalus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/communicating-hydrocephalus" }, { "slug": "vertebral-compression-fracture", "name": "Compression fracture of a vertebral body", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vertebral-compression-fracture" }, { "slug": "coronal-craniosynostosis", "name": "Coronal craniosynostosis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/coronal-craniosynostosis" }, { "slug": "crumpled-long-bones", "name": "Crumpled long bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/crumpled-long-bones" }, { "slug": "shallow-orbits", "name": "Decreased depth of eye sockets", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-eye", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/shallow-orbits" }, { "slug": "microdontia", "name": "Decreased size of tooth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/microdontia" }, { "slug": "delayed-eruption-of-teeth", "name": "Delayed eruption of teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth" }, { "slug": "dentinogenesis-imperfecta", "name": "Dentinogenesis imperfecta", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dentinogenesis-imperfecta" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "wormian-bones", "name": "Extra bones within cranial sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wormian-bones" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "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": "abnormally-high-pitched-voice", "name": "High pitched voice", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormally-high-pitched-voice" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "reduced-bone-mineral-density", "name": "Low solidness and mass of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-bone-mineral-density" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "orbital-craniosynostosis", "name": "Orbital craniosynostosis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/orbital-craniosynostosis" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "popcorn-calcification", "name": "Popcorn calcification", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/popcorn-calcification" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "recurrent-fractures", "name": "Recurrent fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-fractures" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "turricephaly", "name": "Tall shaped head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/turricephaly" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hydrocephalus" } ], "related": [ { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/hu/genes/ano5" }, { "slug": "atp6v0a2", "symbol": "ATP6V0A2", "name": "ATPase H+ transporting V0 subunit a2", "shared": 1, "url": "https://dantelabs.com/hu/genes/atp6v0a2" }, { "slug": "bmp1", "symbol": "BMP1", "name": "bone morphogenetic protein 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/bmp1" }, { "slug": "col1a1", "symbol": "COL1A1", "name": "collagen type I alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/hu/genes/col1a1" }, { "slug": "col1a2", "symbol": "COL1A2", "name": "collagen type I alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/hu/genes/col1a2" }, { "slug": "creb3l1", "symbol": "CREB3L1", "name": "cAMP responsive element binding protein 3 like 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/creb3l1" }, { "slug": "crtap", "symbol": "CRTAP", "name": "cartilage associated protein", "shared": 1, "url": "https://dantelabs.com/hu/genes/crtap" }, { "slug": "fkbp10", "symbol": "FKBP10", "name": "FKBP prolyl isomerase 10", "shared": 1, "url": "https://dantelabs.com/hu/genes/fkbp10" }, { "slug": "gorab", "symbol": "GORAB", "name": "golgin, RAB6 interacting", "shared": 1, "url": "https://dantelabs.com/hu/genes/gorab" }, { "slug": "ifih1", "symbol": "IFIH1", "name": "interferon induced with helicase C domain 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/ifih1" }, { "slug": "ifitm5", "symbol": "IFITM5", "name": "interferon induced transmembrane protein 5", "shared": 1, "url": "https://dantelabs.com/hu/genes/ifitm5" }, { "slug": "kdelr2", "symbol": "KDELR2", "name": "KDEL endoplasmic reticulum protein retention receptor 2", "shared": 1, "url": "https://dantelabs.com/hu/genes/kdelr2" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }