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Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders

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Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Comprehensive Skeletal Dysplasias and Disorders Panel Test code: MA3301 Is a 251 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of disorders involving the skeletal system. About Comprehensive Skeletal Dysplasias and Disorders This panel covers a broad spectrum of skeletal disorders including common and rare skeletal dysplasias (eg. achondroplasia, COL2A1 related dysplasias, diastrophic dysplasia, various types of spondylo-metaphyseal dysplasias), various ciliopathies with skeletal involvement (eg. short rib-polydactylies, asphyxiating thoracic dysplasia dysplasias and Ellis-van Creveld syndrome), various subtypes of osteogenesis imperfecta, campomelic dysplasia, slender bone dysplasias, dysplasias with multiple joint dislocations, chondrodysplasia punctata group of disorders, neonatal osteosclerotic dysplasias, osteopetrosis and related disorders, abnormal mineralization group of disorders (eg hypopohosphatasia), osteolysis group of disorders, disorders with disorganized development of skeletal components, overgrowth syndromes with skeletal involvement, craniosynostosis syndromes, dysostoses with predominant craniofacial involvement, dysostoses with predominant vertebral involvement, patellar dysostoses, brachydactylies, some disorders with limb hypoplasia-reduction defects, ectrodactyly with and without other manifestations, polydactyly-syndactyly-triphalangism group of disorders, and disorders with defects in joint formation and synostoses. Availability 4 weeks Gene Set Description Genes in the Comprehensive Skeletal Dysplasias and Disorders Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ACAN# Spondyloepimetaphyseal dysplasia, aggrecan type, AD/AR 20 56 Spondyloepiphyseal dysplasia, Kimberley type, Osteochondritis dissecans, short stature, and early-onset osteoarthritis ACP5 Spondyloenchondrodysplasia with immune dysregulation AR 12 26 ACVR1 Fibrodysplasia ossificans progressiva AD 14 19 ADAMTS10 Weill-Marchesani syndrome AR 8 14 ADAMTS17 Weill-Marchesani-like syndrome AR 6 7 ADAMTSL2*,# Geleophysic dysplasia 3 AR 8 28 AGPS Rhizomelic chondrodysplasia punctata type 3 AR 4 8 AIFM1 Deafness, Combined oxidative phosphorylation deficiency XL 27 31 6, Cowchock syndrome AKT1 Proteus syndrome, Cowden syndrome AD 5 6 ALPL Odontohypophosphatasia, Hypophosphatasia perinatal AD/AR 78 291 lethal, infantile, juvenile and adult forms https://blueprintgenetics.com/ ALX3 Frontonasal dysplasia type 1 AR 8 8 ALX4 Frontonasal dysplasia type 2, Parietal foramina AD/AR 15 24 AMER1 Osteopathia striata with cranial sclerosis XL 14 40 ANKH Calcium pyrophosphate deposition disease (familial AD 13 20 chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type ANKRD11* KBG syndrome AD 142 132 ANO5 Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 AD/AR 64 121 muscular dystrophies ARHGAP31 Adams-Oliver syndrome AD 3 6 ARSB Mucopolysaccharidosis (Maroteaux-Lamy) AR 118 201 ARSE* Chondrodysplasia punctata X-linked recessive, XL 22 46 brachytelephalangic type (CDPX1) ATP6V0A2 Cutis laxa, Wrinkly skin syndrome AR 16 56 B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity, AR 17 27 Ehlers-Danlos syndrome B3GAT3* Multiple joint dislocations, short stature, craniofacial AR 6 13 dysmorphism, and congenital heart defects B4GALT7 Ehlers-Danlos syndrome, progeroid form AR 8 9 BGN Spondyloepimetaphyseal dysplasia, X-linked, Meester- XL 8 7 Loeys syndrome BHLHA9 Syndactyly Malik-Percin type, mesoaxial synostotic, with AR 4 43 phalangeal reduction, Split hand-foot malformation with long bone deficiency (SHFLD3), Gollop-Wolfgang BMP1 Osteogenesis imperfecta AR 7 21 BMP2 Brachydactyly type A2 AD 5 28 BMPER Diaphanospondylodysostosis AR 6 19 BMPR1B Acromesomelic dysplasia, Demirhan, Brachydactyly AD/AR 12 23 C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH) CA2 Osteopetrosis, with renal tubular acidosis AR 9 31 CANT1 Desbuquois dysplasia AR 20 28 CASR Hypocalcemia, Neonatal hyperparathyroidism, Familial AD/AR 104 396 Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism CDC45 Meier-Gorlin syndrome 7 AR 10 19 CDC6 Meier-Gorlin syndrome (Ear-patella-short stature AR 2 2 syndrome) https://blueprintgenetics.com/ CDKN1C Beckwith-Wiedemann syndrome, IMAGE syndrome AD 35 81 CDT1 Meier-Gorlin syndrome (Ear-patella-short stature AR 6 12 syndrome) CHST14 Ehlers-Danlos syndrome, musculocontractural AR 15 21 CHST3 Spondyloepiphyseal dysplasia with congenital joint AR 18 37 dislocations (recessive Larsen syndrome) CHSY1 Temtamy preaxial brachydactyly syndrome AR 6 16 CKAP2L Filippi syndrome AR 7 7 CLCN5 Proteinuria, low molecular weight, with hypercalciuric XL 48 272 nephrocalcinosis, Hypophosphatemic rickets,, Nephrolithiasis, I, Dent disease CLCN7 Osteopetrosis AD/AR 15 98 COL10A1 Metaphyseal chondrodysplasia, Schmid AD 21 53 COL11A1 Marshall syndrome, Fibrochondrogenesis, Stickler AD/AR 34 94 syndrome type 2 COL11A2 Weissenbacher-Zweymuller syndrome, Deafness, AD/AR 29 57 Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non- ocular) COL1A1 Ehlers-Danlos syndrome, Caffey disease, Osteogenesis AD 352 962 imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 COL1A2 Ehlers-Danlos syndrome, cardiac valvular form, AD/AR 186 509 Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 COL27A1 Steel syndrome AR 7 7 COL2A1 Avascular necrosis of femoral head, Rhegmatogenous AD 180 561 retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1 COL9A1 Stickler syndrome recessive type, Multiple epiphyseal AD/AR 9 6 dysplasia type 6 (EDM6) COL9A2 Stickler syndrome, Multiple epiphyseal dysplasia type 2 AD/AR 7 12 (EDM2) COL9A3 Multiple epihyseal dysplasia type 3 (EDM3), Stickler AD/AR 10 14 syndrome recessive type https://blueprintgenetics.com/ COMP Pseudoachondroplasia, Multiple ephiphyseal dysplasia AD 43 186 CREBBP Rubinstein-Taybi syndrome AD 175 362 CRLF1 Crisponi syndrome, Cold-induced sweating syndrome, AR 21 37 type 1 CRTAP Osteogenesis imperfecta type 2, Osteogenesis imperfecta AR 12 30 type 3, Osteogenesis imperfecta type 4 CSPP1 Jeune asphyxiating thoracic dystrophy, Joubert syndrome AR 32 27 CTSK Pycnodysostosis AR 35 58 CUL7 3-M syndrome, Yakut short stature syndrome AR 26 83 CYP27B1 Vitamin D-dependent rickets AR 23 73 DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type AR 11 9 DHCR24 Desmosterolosis AR 6 9 DLL3 Spondylocostal dysostosis AR 12 26 DLL4 Adams-Oliver syndrome AD 13 14 DLX3 Amelogenesis imperfecta, Trichodontoosseous syndrome AD 5 11 DMP1 Hypophosphatemic rickets AR 5 10 DOCK6 Adams-Oliver syndrome AR 21 21 DVL1 Robinow syndrome AD 17 19 DYM Dyggve-Melchior-Clausen dysplasia, Smith-McCort AR 22 34 dysplasia DYNC2H1 Short -rib thoracic dysplasia with or without polydactyly AR/Digenic 148 205 type 1, Short -rib thoracic dysplasia with or without polydactyly type 3, Asphyxiating thoracic dysplasia (ATD; Jeune), SRPS type 2 (Majewski) EBP Chondrodysplasia punctata, Male EBP disorder with XL 43 90 neurologic defects (MEND) EFNB1 Craniofrontonasal dysplasia XL 28 116 EFTUD2 Mandibulofacial dysostosis with microcephaly, Esophageal AD 45 99 atresia, syndromic EIF2AK3 SED, Wolcott-Rallison type AR 9 80 ENAM Amelogenesis imperfecta AD/AR 8 18 ENPP1 Arterial calcification, Hypophosphatemic rickets AD/AR 22 72 EOGT Adams-Oliver syndrome AR 8 5 EP300 Rubinstein-Taybi syndrome AD 63 101 ESCO2 SC phocomelia syndrome, Roberts syndrome AR 30 31 https://blueprintgenetics.com/ EVC Weyers acrofacial dysostosis, Ellis-van Creveld syndrome AD/AR 58 83 EVC2 Ellis-van Creveld syndrome, Weyers acrodental dysostosis AD/AR 78 75 EXT1 Multiple cartilagenious exostoses 1 AD 97 523 EXT2 Multiple cartilagenious exostoses 2 AD 45 250 EXTL3 Immunoskeletal dysplasia with neurodevelopmental AR 4 8 abnormalities (ISDNA) EZH2 Weaver syndrome AD 29 41 FAM111A Kenny-Caffey syndrome, type 2 AD 5 9 FAM20A Amelogenesis imperfecta (Enamel-renal syndrome) AR 19 41 FAM20C Hypophosphatemia, hyperphosphaturia, dental anomalies, AR 13 25 intracerebral calcifications and osteosclerosis (Raine syndrome) FAM83H Amelogenesis imperfecta AD 14 32 FANCB Fanconi anemia XL 11 21 FANCC Fanconi anemia AR 94 64 FBN1 MASS syndrome, Marfan syndrome, Acromicric dysplasia, AD 1465 2679 Geleophysic dysplasia 3 FBN2 Congenital contractural arachnodactyly (Beals syndrome) AD 50 97 FGF23 Tumoral calcinosis, hyperphosphatemic, AD/AR 10 17 Hypophosphatemic rickets FGFR1 Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic AD/Digenic/Multigenic 72 257 hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Hartsfield syndrome FGFR2 Apert syndrome, Pfeiffer syndrome, Jackson-Weiss AD 100 154 syndrome, Lacrimoauriculodentodigital syndrome, Beare- Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Bent bone dysplasia FGFR3 Lacrimoauriculodentodigital syndrome, Muenke AD/AR 54 77 syndrome, Crouzon syndrome
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