Osteogenesis Imperfecta and Osteoporosis (Version 2.0)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 48 Entitiess
Green Green List (high evidence)	ALPL	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypophosphatasia, adult 146300 (AD, AR) Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR Tags treatable
Green Green List (high evidence)	ANO5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Gnathodiaphyseal dysplasia MIM#166260 Tags
Green Green List (high evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075 Tags
Green Green List (high evidence)	B4GALT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 Tags
Green Green List (high evidence)	BMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type XIII , MIM#614856 Tags
Green Green List (high evidence)	CASR	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hyperparathyroidism, neonatal, MIM# 239200 severe hypercalcemia, bone demineralization, multiple fractures Tags
Green Green List (high evidence)	CCDC134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Osteogenesis imperfecta, type XXII, MIM#619795 Tags
Green Green List (high evidence)	COL1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MONDO:0030854 Osteogenesis imperfecta type 1 MONDO:0008146 Osteogenesis imperfecta type 2 MONDO:0008147 Osteogenesis imperfecta type 3 MONDO:0009804 Osteogenesis imperfecta type 4 MONDO:0008148 Tags
Green Green List (high evidence)	COL1A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta type 1 MONDO:0008146 Osteogenesis imperfecta type 2 MONDO:0008147 Osteogenesis imperfecta type 3 MONDO:0009804 Osteogenesis imperfecta type 4 MONDO:0008148 Tags
Green Green List (high evidence)	COPB2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884 Tags
Green Green List (high evidence)	CREB3L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type XVI, 616229 Tags
Green Green List (high evidence)	CRTAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type VII MIM#610682 Tags
Green Green List (high evidence)	EMILIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations arterial tortuosity-bone fragility syndrome MONDO:0971179 Tags
Green Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations osteogenesis imperfecta type 11 MONDO:0012592 Bruck syndrome MONDO:0017195 Tags
Green Green List (high evidence)	GORAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Geroderma osteodysplasticum, MIM# 231070 Tags
Green Green List (high evidence)	IFITM5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta type V, MIM#610967 Tags
Green Green List (high evidence)	KDELR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Osteogenesis imperfecta 21, MIM# 619131 Increased susceptibility to fractures joint hypermobility Scoliosis Bowing of the legs Bowing of the arms Tags
Green Green List (high evidence)	KIF5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations osteogenesis imperfecta, MONDO:0019019 Tags
Green Green List (high evidence)	LRP5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations osteoporosis-pseudoglioma syndrome MONDO:0009820 Tags
Green Green List (high evidence)	MESD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Osteogenesis imperfecta, type XX, MIM# 618644 Tags
Green Green List (high evidence)	NBAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations short stature bone fragility developmental delay immunodeficiency autism Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800 Tags
Green Green List (high evidence)	NOTCH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hajdu-Cheney syndrome (MIM#102500) Tags
Green Green List (high evidence)	P3H1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type VIII, (MIM# 610915) Tags founder
Green Green List (high evidence)	P4HB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cole-Carpenter syndrome 1, MIM#112240 Tags
Green Green List (high evidence)	PLOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bruck syndrome 2, MIM# 609220 Tags
Green Green List (high evidence)	PLS3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations X-linked osteoporosis with fractures MONDO:0018315 Tags
Green Green List (high evidence)	PPIB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type IX, MIM# 259440 Tags
Green Green List (high evidence)	SEC24D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cole-Carpenter syndrome 2, MIM# 616294 Tags
Green Green List (high evidence)	SERPINF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type VI, MIM# 613982 Tags
Green Green List (high evidence)	SERPINH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type X, MIM# 613848 Tags
Green Green List (high evidence)	SGMS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550 Tags
Green Green List (high evidence)	SP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta type 12, MONDO:0013460 Osteogenesis imperfecta, type XII, OMIM:613849 Tags
Green Green List (high evidence)	SPARC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type XVII, MIM# 616507 Tags
Green Green List (high evidence)	SUCO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Syndromic disease (MONDO:0002254), SUCO-related Tags
Green Green List (high evidence)	TAPT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) Tags
Green Green List (high evidence)	TENT5A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type XVIII, MIM# 617952 Tags new gene name
Green Green List (high evidence)	TMEM38B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type XIV , MIM#615066 Tags
Green Green List (high evidence)	TNFRSF11B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations juvenile Paget disease MONDO:0009394 chondrocalcinosis 1 MONDO:0010917 Tags
Green Green List (high evidence)	TRPV6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperparathyroidism, transient neonatal, MIM# 618188 Tags
Green Green List (high evidence)	UNC45A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteootohepatoenteric syndrome, MIM# 619377 cholestasis congenital diarrhea impaired hearing bone fragility Tags
Green Green List (high evidence)	WNT1	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteogenesis imperfecta, type XV, MIM# 615220 Osteoporosis MONDO:0005298 Tags
Green Green List (high evidence)	WNT11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Osteoporosis, MONDO:0005298, WNT11-related Tags
Green Green List (high evidence)	XYLT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Spondyloocular syndrome MIM#605822 Tags
Amber Amber List (moderate evidence)	MBTPS2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Disease associations Osteogenesis imperfecta, type XIX, MIM# 301014 Tags
Amber Amber List (moderate evidence)	PHLDB1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Osteogenesis imperfecta, type XXIII, MIM# 620639 Tags
Red Red List (low evidence)	MIR2861	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Literature Disease associations osteoporosis MONDO:0005298 Tags
Red Red List (low evidence)	NUDT6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Red Disease associations Osteogenesis imperfecta, MONDO:0019019, NUDT6-related Tags
Red Red List (low evidence)	WNT4	1 review 1 red	Unknown	Sources Expert list Disease associations Osteoporosis Tags

Osteogenesis Imperfecta and Osteoporosis (Version 2.0)

12 reviewers

48 Entities

48 reviewed, 43 green

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