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"biotype": "protein_coding", "start": 46396414, "end": 46594242, "strand": "-", "slug": "ambra1" }, { "symbol": "HARBI1", "ensemblId": "ENSG00000180423", "biotype": "protein_coding", "start": 46601280, "end": 46617909, "strand": "-", "slug": "harbi1" }, { "symbol": "ATG13", "ensemblId": "ENSG00000175224", "biotype": "protein_coding", "start": 46617251, "end": 46674818, "strand": "+", "slug": "atg13" }, { "symbol": "ARHGAP1", "ensemblId": "ENSG00000175220", "biotype": "protein_coding", "start": 46677075, "end": 46700977, "strand": "-", "slug": "arhgap1" }, { "symbol": "ZNF408", "ensemblId": "ENSG00000175213", "biotype": "protein_coding", "start": 46701011, "end": 46705913, "strand": "+", "slug": "znf408" }, { "symbol": "F2", "ensemblId": "ENSG00000180210", "biotype": "protein_coding", "start": 46719079, "end": 46768566, "strand": "+", "slug": "f2" }, { "symbol": "CKAP5", "ensemblId": "ENSG00000175216", "biotype": "protein_coding", "start": 46742768, "end": 46846308, "strand": "-", "slug": "ckap5" } ], "truncated": false }, "reports": [ { "slug": "osteogenesis-imperfecta", "name": "Osteogénesis imperfecta", "diseases": [ { "mondoId": "MONDO:0019019", "name": "Osteogénesis imperfecta", "genes": 34, "inheritance": null, "description": "Grupo de trastornos hereditarios del tejido conectivo que provocan fragilidad ósea y fracturas frecuentes, a menudo acompañadas de escleras azules, pérdida auditiva y anomalías dentales.", "management": "Bisfosfonatos intravenosos cíclicos (pamidronate, zoledronate); enclavado ortopédico de huesos largos; fisioterapia; denosumab (en uso clínico para la OI pediátrica); romosozumab (en fase de desarrollo); monitorización auditiva; manejo odontológico de la dentinogénesis imperfecta", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/es/conditions/osteogenesis-imperfecta" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "angulated-humerus", "name": "Angulated long bone in upper arm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/angulated-humerus" }, { "slug": "blue-sclerae", "name": "Blue outer white part of eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "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": "obligate", "url": "https://dantelabs.com/traits/bowing-of-the-long-bones" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "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": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "tooth-agenesis", "name": "Decreased number of teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tooth-agenesis" }, { "slug": "mesomelia", "name": "Disproportionately short middle portion of limb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mesomelia" }, { "slug": "rhizomelia", "name": "Disproportionately short upper portion of limb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system", "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/rhizomelia" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "wormian-bones", "name": "Extra bones within cranial sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/wormian-bones" }, { "slug": "platyspondyly", "name": "Flattened vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/platyspondyly" }, { "slug": "multiple-rib-fractures", "name": "Multiple rib fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/multiple-rib-fractures" }, { "slug": "narrow-chest", "name": "Narrow chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-chest" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "prolonged-bleeding-time", "name": "Prolonged bleeding time", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-bleeding-time" }, { "slug": "recurrent-fractures", "name": "Recurrent fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-fractures" }, { "slug": "short-long-bone", "name": "Short long bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-long-bone" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "microretrognathia", "name": "Small retruded chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microretrognathia" }, { "slug": "decreased-calvarial-ossification", "name": "Soft skullcap", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-calvarial-ossification" } ], "related": [ { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/es/genes/ano5" }, { "slug": "atp6v0a2", "symbol": "ATP6V0A2", "name": "ATPase H+ transporting V0 subunit a2", "shared": 1, "url": "https://dantelabs.com/es/genes/atp6v0a2" }, { "slug": "bmp1", "symbol": "BMP1", "name": "bone morphogenetic protein 1", "shared": 1, "url": "https://dantelabs.com/es/genes/bmp1" }, { "slug": "col1a1", "symbol": "COL1A1", "name": "collagen type I alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/es/genes/col1a1" }, { "slug": "col1a2", "symbol": "COL1A2", "name": "collagen type I alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/es/genes/col1a2" }, { "slug": "crtap", "symbol": "CRTAP", "name": "cartilage associated protein", "shared": 1, "url": "https://dantelabs.com/es/genes/crtap" }, { "slug": "fkbp10", "symbol": "FKBP10", "name": "FKBP prolyl isomerase 10", "shared": 1, "url": "https://dantelabs.com/es/genes/fkbp10" }, { "slug": "gorab", "symbol": "GORAB", "name": "golgin, RAB6 interacting", "shared": 1, "url": "https://dantelabs.com/es/genes/gorab" }, { "slug": "ifih1", "symbol": "IFIH1", "name": "interferon induced with helicase C domain 1", "shared": 1, "url": "https://dantelabs.com/es/genes/ifih1" }, { "slug": "ifitm5", "symbol": "IFITM5", "name": "interferon induced transmembrane protein 5", "shared": 1, "url": "https://dantelabs.com/es/genes/ifitm5" }, { "slug": "kdelr2", "symbol": "KDELR2", "name": "KDEL endoplasmic reticulum protein retention receptor 2", "shared": 1, "url": "https://dantelabs.com/es/genes/kdelr2" }, { "slug": "kif5b", "symbol": "KIF5B", "name": "kinesin family member 5B", "shared": 1, "url": "https://dantelabs.com/es/genes/kif5b" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }