List of diseases covered by
Osteogenesis Imperfecta NGS panel

Gene Condition
ALPL Hypophosphatasia, adult; Hypophosphatasia, childhood;
Hypophosphatasia, infantile
ANO5 Gnathodiaphyseal dysplasia; Miyoshi muscular dystrophy 3;
Muscular dystrophy, limb-girdle, autosomal recessive 12
BMP1 Osteogenesis imperfecta, type XIII
CA2 Osteopetrosis, autosomal recessive 3,
with renal tubular acidosis
CLCN7 Hypopigmentation, organomegaly,
and delayed myelination and development; Osteopetrosis, autosomal dominant 2;
Osteopetrosis, autosomal recessive 4
COL1A1 Caffey disease; Ehlers-Danlos syndrome, arthrochalasia type, 1;
Osteogenesis imperfecta, type I; Osteogenesis imperfecta, type Ii;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
COL1A2 hlers-Danlos syndrome, arthrochalasia type, 2;
Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta, type II;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
CREB3L1 Osteogenesis imperfecta, type XVI
CRTAP Osteogenesis imperfecta, type VII
CTSK Pycnodysostosis
DSPP Deafness, autosomal dominant 39, with dentinogenesis;
Dentin dysplasia, type II; Dentinogenesis imperfecta, Shields type II;
Dentinogenesis imperfecta, Shields type III
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
GORAB Geroderma osteodysplasticum
IFITM5 Osteogenesis imperfecta, type V
KDELR2 Osteogenesis imperfecta
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
MBTPS2 Osteogenesis imperfecta, type XIX;
Olmsted syndrome, X-linked;
IFAP syndrome with or without BRESHECK syndrome;
Keratosis follicularis spinulosa decalvans, X-linked
MESD Osteogenesis imperfecta, type XX
NOTCH2 Alagille syndrome 2; Hajdu-Cheney syndrome
OSTM1 Osteopetrosis, autosomal recessive 5
P3H1 Osteogenesis imperfecta, type VIII
P4HB Cole-Carpenter syndrome 1
PLEKHM1 Osteopetrosis, autosomal recessive 6;
Osteopetrosis, autosomal dominant 3
PLOD2 Bruck syndrome 2
PLS3 Bone mineral density QTL18, osteoporosis
PPIB Osteogenesis imperfecta, type IX
SEC24D Cole-Carpenter syndrome 2
SERPINF1 Osteogenesis imperfecta, type VI
SERPINH1 Osteogenesis imperfecta, type X
SLC26A2 Achondrogenesis Ib; Atelosteogenesis, type II;
De la Chapelle dysplasia; Diastrophic dysplasia;
Epiphyseal dysplasia, multiple, 4
SNX10 Osteopetrosis, autosomal recessive 8
SOX9 Acampomelic campomelic dysplasia; Campomelic dysplasia;
Campomelic dysplasia with autosomal sex reversal
SP7 Osteogenesis imperfecta, type XII
SPARC Osteogenesis imperfecta, type XVII
TCIRG1 Osteopetrosis, autosomal recessive 1
TENT5A Osteogenesis imperfecta, type XVIII
TMEM38B Osteogenesis imperfecta, type XIV
TNFRSF11A Osteopetrosis, autosomal recessive 7
TNFSF11 Osteopetrosis, autosomal recessive 2
WNT1 Osteogenesis imperfecta, type XV