List of diseases covered by
Skeletal Dysplasia NGS panel
| Gene | Condition |
| AGPS | Rhizomelic chondrodysplasia punctata, type 3 |
| ALPL | Hypophosphatasia, adult; Hypophosphatasia, childhood; Hypophosphatasia, infantile; Odontohypophosphatasia |
| ARSL | Chondrodysplasia punctata, X-linked recessive |
| CANT1 | Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7 |
| CCN6 | Progressive pseudorheumatoid dysplasia |
| CHST3 | Spondyloepiphyseal dysplasia with congenital joint dislocations |
| CLCN7 | Hypopigmentation, organomegaly, and delayed myelination and development; Osteopetrosis, autosomal dominant 2; Osteopetrosis, autosomal recessive 4 |
| COL1A1 | Ehlers-Danlos syndrome, arthrochalasia type, 1; Caffey disease; Osteogenesis imperfecta, type I; Osteogenesis imperfecta, type II; Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV |
| COL1A2 | Ehlers-Danlos syndrome, arthrochalasia type, 2; Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta, type II; Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV |
| COL11A1 | Stickler syndrome, type II; Fibrochondrogenesis 1; Marshall syndrome |
| COL11A2 | Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal recessive |
| COL2A1 | Stickler syndrome type 1; Stickler sydrome, type I, nonsyndromic ocular; Achondrogenesis, type II or hypochondrogenesis; Avascular necrosis of the femoral head; Czech dysplasia; Epiphyseal dysplasia, multiple, with myopia and deafness; Kniest dysplasia; Legg-Calve-Perthes disease; Legg-Calve-Perthes disease; Osteoarthritis with mild chondrodysplasia; Platyspondylic skeletal dysplasia, Torrance type; SED congenita; SMED Strudwick type; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloperipheral dysplasia |
| COL9A1 | Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6 |
| COL9A2 | Stickler syndrome, type V; Epiphyseal dysplasia, multiple, 2 |
| COL9A3 | Epiphyseal dysplasia, multiple, 3, with or without myopathy; Intervertebral disc disease, susceptibility to |
| COMP | Epiphyseal dysplasia, multiple, 1; Pseudoachondroplasia |
| CRTAP | Osteogenesis imperfecta, type VII |
| DDR2 | Spondylometaepiphyseal dysplasia, short limb-hand type; Warburg-Cinotti syndrome |
| DHCR24 | Desmosterolosis |
| DVL1 | Robinow syndrome, autosomal dominant 2 |
| DYM | Dyggve-Melchior-Clausen disease; Smith-McCort dysplasia |
| DYNC2H1 | Short-rib thoracic dysplasia 3 with or without polydactyly |
| DYNC2I2 | Short-rib thoracic dysplasia 11 with or without polydactyly |
| EBP | Chondrodysplasia punctata, X-linked dominant; MEND syndrome |
| ESCO2 | Roberts syndrome; SC phocomelia syndrome |
| EVC | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome |
| EVC2 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome |
| FAM111A | Gracile bone dysplasia; Kenny-Caffey syndrome, type 2 |
| FAM20C | Raine syndrome |
| FGFR1 | Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis; Hartsfield syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Osteoglophonic dysplasia; Trigonocephaly 1 |
| FGFR2 | Apert syndrome; Beare-Stevenson cutis gyrata syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Bent bone dysplasia syndrome; Craniofacial-skeletal-dermatologic dysplasia; Crouzon syndrome; Jackson-Weiss syndrome; LADD syndrome; Pfeiffer syndrome; Saethre-Chotzen syndrome; Scaphocephaly, maxillary retrusion, and mental retardation |
| FGFR3 | CATSHL syndrome; Achondroplasia; Crouzon syndrome with acanthosis nigricans; Hypochondroplasia; LADD syndrome; Muenke syndrome; SADDAN; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II |
| FKBP10 | Osteogenesis imperfecta, type XI; Bruck syndrome 1 |
| FLNA | FG syndrome 2; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; Frontometaphyseal dysplasia 1; Heterotopia, periventricular; Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia |
| FLNB | Atelosteogenesis, type I; Atelosteogenesis, type I; Boomerang dysplasia; Larsen syndrome; Spondylocarpotarsal synostosis syndrome |
| GNPAT | Rhizomelic chondrodysplasia punctata, type 2 |
| GPC6 | Omodysplasia 1 |
| HSPG2 | Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome, type 1 |
| IDUA | Mucopolysaccharidosis Ih (Hurler syndrome) |
| IFITM5 | Osteogenesis imperfecta, type V |
| IFT80 | Short-rib thoracic dysplasia 2 with or without polydactyly |
| IL11RA | Craniosynostosis and dental anomalies |
| INPPL1 | Opsismodysplasia |
| LBR | Reynolds syndrome; Greenberg skeletal dysplasia; Pelger-Huet anomaly; Pelger-Huet anomaly with mild skeletal anomalies |
| LIFR | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome |
| LRP5 | Exudative vitreoretinopathy 4; Hyperostosis, endosteal; Osteopetrosis, autosomal dominant 1; Osteoporosis-pseudoglioma syndrome; Polycystic liver disease 4 with or without kidney cysts; van Buchem disease, type 2 |
| MATN3 | Spondyloepimetaphyseal dysplasia, Borochowitz Cormier-Daire type; Osteoarthritis susceptibility 2; Epiphyseal dysplasia, multiple, 5 |
| MMP13 | Spondyloepimetaphyseal dysplasia, Missouri type; Metaphyseal anadysplasia 1; Metaphyseal dysplasia, Spahr type |
| MMP9 | Metaphyseal anadysplasia 2 |
| MSX2 | Craniosynostosis 2; Parietal foramina 1; Parietal foramina with cleidocranial dysplasia |
| NEK1 | Amyotrophic lateral sclerosis, susceptibility to, 24; Short-rib thoracic dysplasia 6 with or without polydactyly |
| NOTCH2 | Alagille syndrome 2; Hajdu-Cheney syndrome |
| NPR2 | Acromesomelic dysplasia, Maroteaux type; Epiphyseal chondrodysplasia, Miura type; Short stature with nonspecific skeletal abnormalities |
| NSDHL | CHILD syndrome; CK syndrome |
| PEX7 | Peroxisome biogenesis disorder 9B; Rhizomelic chondrodysplasia punctata, type 1 |
| P3H1 | Osteogenesis imperfecta, type VIII |
| PLOD2 | Bruck syndrome 2 |
| PPIB | Osteogenesis imperfecta, type IX |
| PTDSS1 | Lenz-Majewski hyperostotic dwarfism |
| PTH1R | Chondrodysplasia, Blomstrand type; Eiken syndrome; Failure of tooth eruption, primary; Metaphyseal chondrodysplasia, Murk Jansen type |
| RECQL4 | Baller-Gerold syndrome; RAPADILINO syndrome; Rothmund-Thomson syndrome |
| ROR2 | Robinow syndrome, autosomal recessive; Brachydactyly, type B1 |
| SERPINH1 | Osteogenesis imperfecta, type X; Preterm premature rupture of the membranes, susceptibility to |
| SHOX | Langer mesomelic dysplasia; Leri-Weill dyschondrosteosis; Short stature, idiopathic familial |
| SLC26A2 | Achondrogenesis Ib; Atelosteogenesis, type II; De la Chapelle dysplasia; Diastrophic dysplasia; Epiphyseal dysplasia, multiple, 4 |
| SLC29A3 | Histiocytosis-lymphadenopathy plus syndrome |
| SLC35D1 | Schneckenbecken dysplasia |
| SOX9 | Campomelic dysplasia |
| TBX5 | Holt-Oram syndrome |
| TCIRG1 | Osteopetrosis, autosomal recessive 1 |
| TMEM38B | Osteogenesis imperfecta, type XIV |
| TRIP11 | Achondrogenesis, type IA |
| TRPV4 | Avascular necrosis of femoral head, primary, 2; Sodium serum level QTL 1; Brachyolmia type 3; Digital arthropathy-brachydactyly, familial; Hereditary motor and sensory neuropathy, type IIc; Metatropic dysplasia; Neuronopathy, distal hereditary motor, type VIII; Parastremmatic dwarfism; Scapuloperoneal spinal muscular atrophy; SED, Maroteaux type; Spondylometaphyseal dysplasia, Kozlowski type |
| TWIST1 | Craniosynostosis 1; Robinow-Sorauf syndrome; Saethre-Chotzen syndrome with or without eyelid anomalies; Sweeney-Cox syndrome |
| WDR19 | Cranioectodermal dysplasia 4; Short-rib thoracic dysplasia 5 with or without polydactyly; Nephronophthisis 13; Senior-Loken syndrome 8 |
| WDR35 | Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly |
| WNT1 | Osteogenesis imperfecta, type XV; Osteoporosis, early-onset, susceptibility to |
| WNT5A | Robinow syndrome, autosomal dominant 1 |
| XYLT1 | Pseudoxanthoma elasticum, modifier of severity of; Desbuquois dysplasia 2 |