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"ENSG00000267221", "biotype": "protein_coding", "start": 42038232, "end": 42050601, "strand": "-", "slug": "c17orf113" }, { "symbol": "DHX58", "ensemblId": "ENSG00000108771", "biotype": "protein_coding", "start": 42101404, "end": 42112735, "strand": "-", "slug": "dhx58" }, { "symbol": "KAT2A", "ensemblId": "ENSG00000108773", "biotype": "protein_coding", "start": 42113109, "end": 42121382, "strand": "-", "slug": "kat2a" }, { "symbol": "", "ensemblId": "ENSG00000267261", "biotype": "protein_coding", "start": 42119674, "end": 42154916, "strand": "-" }, { "symbol": "HSPB9", "ensemblId": "ENSG00000260325", "biotype": "protein_coding", "start": 42122804, "end": 42123352, "strand": "+", "slug": "hspb9" }, { "symbol": "RAB5C", "ensemblId": "ENSG00000108774", "biotype": "protein_coding", "start": 42124976, "end": 42155044, "strand": "-", "slug": "rab5c" }, { "symbol": "KCNH4", "ensemblId": "ENSG00000089558", "biotype": "protein_coding", "start": 42156891, "end": 42181146, "strand": "-", "slug": "kcnh4" }, { "symbol": "HCRT", "ensemblId": "ENSG00000161610", "biotype": "protein_coding", "start": 42184060, "end": 42185452, "strand": "-", "slug": "hcrt" }, { "symbol": "GHDC", "ensemblId": "ENSG00000167925", "biotype": "protein_coding", "start": 42188799, "end": 42194513, "strand": "-", "slug": "ghdc" }, { "symbol": "STAT5B", "ensemblId": "ENSG00000173757", "biotype": "protein_coding", "start": 42199176, "end": 42288633, "strand": "-", "slug": "stat5b" }, { "symbol": "STAT5A", "ensemblId": "ENSG00000126561", "biotype": "protein_coding", "start": 42287547, "end": 42311943, "strand": "+", "slug": "stat5a" }, { "symbol": "STAT3", "ensemblId": "ENSG00000168610", "biotype": "protein_coding", "start": 42313322, "end": 42388574, "strand": "-", "slug": "stat3" } ], "truncated": false }, "reports": [ { "slug": "osteogenesis-imperfecta", "name": "Osteogenesis Imperfecta", "diseases": [ { "mondoId": "MONDO:0009806", "name": "Bruckin oireyhtymä 1", "genes": 1, "inheritance": "autosomal-recessive", "description": "Osteogenesis imperfectan muoto, jonka aiheuttavat FKBP10-variantit. Siihen liittyvät luiden hauraus ja murtumat sekä syntymästä alkaen esiintyvät nivelkontraktuurit.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019019", "name": "Osteogenesis Imperfecta", "genes": 34, "inheritance": null, "description": "Joukko perinnöllisiä sidekudossairauksia, jotka aiheuttavat hauraita luita, jotka murtuvat helposti. Oireisiin kuuluu usein sinertävä sklera, kuulonalenema ja hammasongelmia.", "management": "Syklinen laskimonsisäinen bisfosfonaattihoito (pamidronaatti, zoledronaatti); pitkien luiden ortopedinen tukeminen tankoin; fysioterapia; denosumabi (käytössä kliinisesti lasten OI:n hoidossa); romosotsumabi (kehitteillä); kuulon seuranta; hampaiden hoito dentinogenesis imperfectan vuoksi", "evidence": { "gencc": [ "Illumina", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/osteogenesis-imperfecta" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-clavicle-morphology", "name": "Abnormal collarbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-clavicle-morphology" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-vertebral-body-morphology", "name": "Abnormal vertebral body morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology" }, { "slug": "protrusio-acetabuli", "name": "Abnormally indented hip sockets", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/protrusio-acetabuli" }, { "slug": "aplasia-hypoplasia-of-the-patella", "name": "Absent/small kneecap", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-patella" }, { "slug": "ankle-flexion-contracture", "name": "Ankle flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ankle-flexion-contracture" }, { "slug": "aplasia-hypoplasia-of-the-radius", "name": "Aplasia/Hypoplasia of the radius", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-radius" }, { "slug": "arthrogryposis-multiplex-congenita", "name": "Arthrogryposis multiplex congenita", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita" }, { "slug": "melanocytic-nevus", "name": "Beauty mark", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/melanocytic-nevus" }, { "slug": "biconcave-vertebral-bodies", "name": "Biconcave vertebral bodies", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/biconcave-vertebral-bodies" }, { "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": "occasional", "url": "https://dantelabs.com/traits/bowing-of-the-long-bones" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/brachycephaly" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "vertebral-compression-fracture", "name": "Compression fracture of a vertebral body", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/vertebral-compression-fracture" }, { "slug": "coxa-vara", "name": "Coxa vara", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coxa-vara" }, { "slug": "dentinogenesis-imperfecta", "name": "Dentinogenesis imperfecta", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dentinogenesis-imperfecta" }, { "slug": "diminished-deep-tendon-reflex", "name": "Diminished deep tendon reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "elbow-flexion-contracture", "name": "Elbow flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elbow-flexion-contracture" }, { "slug": "elevated-circulating-alkaline-phosphatase-concentration", "name": "Elevated alkaline phosphatase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration" }, { "slug": "wormian-bones", "name": "Extra bones within cranial sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/wormian-bones" }, { "slug": "platyspondyly", "name": "Flattened vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/platyspondyly" }, { "slug": "hip-contracture", "name": "Hip contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hip-contracture" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "knee-flexion-contracture", "name": "Inability to straighten knee", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/knee-flexion-contracture" }, { "slug": "increased-susceptibility-to-fractures", "name": "Increased susceptibility to fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures" }, { "slug": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "slug": "kyphoscoliosis", "name": "Kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/kyphoscoliosis" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "pterygium", "name": "Pterygium", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pterygium" }, { "slug": "recurrent-fractures", "name": "Recurrent fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-fractures" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "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": "talipes", "name": "Talipes", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/talipes" }, { "slug": "triangular-face", "name": "Triangular face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/triangular-face" }, { "slug": "vertebral-wedging", "name": "Wedge-shaped vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vertebral-wedging" } ], "related": [ { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/fi/genes/ano5" }, { "slug": "atp6v0a2", "symbol": "ATP6V0A2", "name": "ATPase H+ transporting V0 subunit a2", "shared": 1, "url": "https://dantelabs.com/fi/genes/atp6v0a2" }, { "slug": "bmp1", "symbol": "BMP1", "name": "bone morphogenetic protein 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/bmp1" }, { "slug": "col1a1", "symbol": "COL1A1", "name": "collagen type I alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/fi/genes/col1a1" }, { "slug": "col1a2", "symbol": "COL1A2", "name": "collagen type I alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/fi/genes/col1a2" }, { "slug": "creb3l1", "symbol": "CREB3L1", "name": "cAMP responsive element binding protein 3 like 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/creb3l1" }, { "slug": "crtap", "symbol": "CRTAP", "name": "cartilage associated protein", "shared": 1, "url": "https://dantelabs.com/fi/genes/crtap" }, { "slug": "gorab", "symbol": "GORAB", "name": "golgin, RAB6 interacting", "shared": 1, "url": "https://dantelabs.com/fi/genes/gorab" }, { "slug": "ifih1", "symbol": "IFIH1", "name": "interferon induced with helicase C domain 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/ifih1" }, { "slug": "ifitm5", "symbol": "IFITM5", "name": "interferon induced transmembrane protein 5", "shared": 1, "url": "https://dantelabs.com/fi/genes/ifitm5" }, { "slug": "kdelr2", "symbol": "KDELR2", "name": "KDEL endoplasmic reticulum protein retention receptor 2", "shared": 1, "url": "https://dantelabs.com/fi/genes/kdelr2" }, { "slug": "kif5b", "symbol": "KIF5B", "name": "kinesin family member 5B", "shared": 1, "url": "https://dantelabs.com/fi/genes/kif5b" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }