Table 1.

Low bone mineral density panel genes and conditions

Gene	Disease
COL1A1	Osteogenesis imperfecta, types I, II, III and IV (AD); Ehlers-Danlos syndrome, type VIIA (AD)
COL1A2	Osteogenesis imperfecta, types II, III and IV (AD); Ehlers-Danlos syndrome, type VIIB (AD) and cardiac valvular form (AR)
CRTAP	Osteogenesis imperfecta, types II, III, IV and VII (AR)
LEPRE1	Osteogenesis imperfecta, types II, III and VIII (AR)
PPIB	Osteogenesis imperfecta, types II, III, IV and IX (AR forms)
FKBP10	Osteogenesis imperfecta types III and VI (AR forms); Bruck syndrome (AR)
SERPINF1	Osteogenesis imperfecta, types III and VI (AR)
SP7	Osteogenesis imperfecta, types IV and XI (AR)
PLOD2	Bruck syndrome 2 (AR)
PLOD3	Bone Fragility with Contractures, Arterial rupture and Deafness (AR)
COL3A1	Ehlers-Danlos syndrome, type IV (AD)
COL5A1	Ehlers-Danlos syndrome, types I and II (AD)
COL5A2	Ehlers-Danlos syndrome, types I and II (AD)
B4GALT7	Ehlers-Danlos syndrome, Progeroid Form (AR)
SLC39A13	Ehlers-Danlos syndrome, Spondylocheirodysplastic form (AR)
ALPL	Hypophosphatasia (AR, AD), Odontohypophosphatasia (AD)
SLC34A1	Hypophosphatemic nephrolithiasis/osteoporosis 1 (AD); Fanconirenotubular syndrome 2 (AR)
SLC9A3R1	Hypophosphatemic nephrolithiasis/osteoporosis 2 (AD)
FBN1	Marfan, MASS, Stiff skin, Shprintzen-Goldberg and Weill-Marchesani syndromes, Acromicric and Geleophysicdysplasias (all AD)
TNFRSF11A	Paget disease of bone (AD); Osteolysis, familial expansile (AD)
TNFRSF11B	Paget disease, juvenile (AR)

OI types are classified according to the Sillence classification[26]. SERPINH1 can cause OI but needs to be added by Sanger sequencing. AD= autosomal dominant; AR= autosomal recessive.