Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ALPL gene ALPL Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypophosphatasia, adult 146300 (AD, AR);Hypophosphatasia, childhood 241510 AR;Hypophosphatasia, infantile 241500 AR;Odontohypophosphatasia 146300 AD, AR Increased susceptibility to fractures;HP:0002659 19500388;23688511 False 3 100;0;0 1.0 True ENSG00000162551 ENSG00000162551 HGNC:438 ANO5 gene ANO5 Expert list;Expert Review Green Osteogenesis Imperfecta and Osteoporosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gnathodiaphyseal dysplasia MIM#166260 Increased susceptibility to fractures;HP:0002659 30712070;15124103;30641283;29175271 False 3 100;0;0 1.0 True ENSG00000171714 ENSG00000171714 HGNC:27337 B3GALT6 gene B3GALT6 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075 Increased susceptibility to fractures;HP:0002659 23664117;23664118 False 3 100;0;0 1.0 True ENSG00000176022 ENSG00000176022 HGNC:17978 B4GALT7 gene B4GALT7 Expert list;Expert Review Green Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070" Increased susceptibility to fractures;HP:0002659 26940150 False 3 100;0;0 1.0 True ENSG00000027847 ENSG00000027847 HGNC:930 BMP1 gene BMP1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIII , MIM#614856 Increased susceptibility to fractures;HP:0002659 25402547;22052668;22482805;25214535 False 3 100;0;0 1.0 True ENSG00000168487 ENSG00000168487 HGNC:1067 CASR gene CASR Expert list;Expert Review Green Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Hyperparathyroidism, neonatal, MIM# 239200;severe hypercalcemia, bone demineralization, multiple fractures" Increased susceptibility to fractures;HP:0002659 22620673 False 3 100;0;0 1.0 True ENSG00000036828 ENSG00000036828 HGNC:1514 CCDC134 gene CCDC134 Expert list;Expert Review Green Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XXII, MIM#619795 Increased susceptibility to fractures;HP:0002659 32181939;34204301;35019224 False 3 100;0;0 1.0 True ENSG00000100147 ENSG00000100147 HGNC:26185 COL1A1 gene COL1A1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Increased susceptibility to fractures;HP:0002659 20301472;15728585;17078022;23692737 False 3 100;0;0 1.0 True ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta type 1 MONDO:0008146;Osteogenesis imperfecta type 2 MONDO:0008147;Osteogenesis imperfecta type 3 MONDO:0009804;Osteogenesis imperfecta type 4 MONDO:0008148 Increased susceptibility to fractures;HP:0002659 20301472;2897363;8257992;8401517 False 3 100;0;0 1.0 True ENSG00000164692 ENSG00000164692 HGNC:2198 COPB2 gene COPB2 Expert Review Green;Literature Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884 Increased susceptibility to fractures;HP:0002659 34450031 False 3 100;0;0 1.0 True ENSG00000184432 ENSG00000184432 HGNC:2232 CREB3L1 gene CREB3L1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVI, 616229 Increased susceptibility to fractures;HP:0002659 24079343;28817112;29936144;30657919 False 3 100;0;0 1.0 True ENSG00000157613 ENSG00000157613 HGNC:18856 CRTAP gene CRTAP Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII MIM#610682 Increased susceptibility to fractures;HP:0002659 21955071;19846465;17192541 False 3 100;0;0 1.0 True ENSG00000170275 ENSG00000170275 HGNC:2379 FAM46A gene FAM46A Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Osteogenesis imperfecta, type XVIII, MIM# 617952" Increased susceptibility to fractures;HP:0002659 False 3 0;0;0 1.0 True ENSG00000112773 ENSG00000112773 HGNC:18345 FKBP10 gene FKBP10 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal osteogenesis imperfecta type 11 MONDO:0012592;Bruck syndrome MONDO:0017195 Increased susceptibility to fractures;HP:0002659 20362275;20839288 False 3 100;0;0 1.0 True ENSG00000141756 ENSG00000141756 HGNC:18169 GORAB gene GORAB Expert list;Expert Review Green Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Geroderma osteodysplasticum, MIM# 231070" Increased susceptibility to fractures;HP:0002659 False 3 100;0;0 1.0 True ENSG00000120370 ENSG00000120370 HGNC:25676 IFITM5 gene IFITM5 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta type V, MIM#610967 Increased susceptibility to fractures;HP:0002659 22863190;22863195;32383316;24519609 False 3 100;0;0 1.0 True Other ENSG00000206013 ENSG00000206013 HGNC:16644 KDELR2 gene KDELR2 Expert Review;Expert Review Green Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Osteogenesis imperfecta 21, MIM# 619131;Increased susceptibility to fractures;joint hypermobility;Scoliosis;Bowing of the legs;Bowing of the arms" Increased susceptibility to fractures;HP:0002659 33053334 False 3 100;0;0 1.0 True ENSG00000136240 ENSG00000136240 HGNC:6305 KIF5B gene KIF5B Expert Review Green;Literature Osteogenesis Imperfecta and Osteoporosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted osteogenesis imperfecta, MONDO:0019019 Increased susceptibility to fractures;HP:0002659 37934770 False 3 100;0;0 1.0 True ENSG00000170759 ENSG00000170759 HGNC:6324 LRP5 gene LRP5 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal osteoporosis-pseudoglioma syndrome MONDO:0009820 Increased susceptibility to fractures;HP:0002659 20034086 False 3 100;0;0 1.0 True ENSG00000162337 ENSG00000162337 HGNC:6697 MESD gene MESD Expert Review Green;Other Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Osteogenesis imperfecta, type XX, MIM# 618644" Increased susceptibility to fractures;HP:0002659 31564437 False 3 100;0;0 1.0 True ENSG00000117899 ENSG00000117899 HGNC:13520 NBAS gene NBAS Expert Review Green;NHS GMS Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "short stature;bone fragility;developmental delay;immunodeficiency;autism;Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800" Increased susceptibility to fractures;HP:0002659 27789416;29955634 False 3 100;0;0 1.0 True ENSG00000151779 ENSG00000151779 HGNC:15625 NOTCH2 gene NOTCH2 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hajdu-Cheney syndrome (MIM#102500) Increased susceptibility to fractures;HP:0002659 16773578;21378985;21378989 False 3 100;0;0 1.0 True ENSG00000134250 ENSG00000134250 HGNC:7882 P3H1 gene P3H1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VIII, (MIM# 610915) Increased susceptibility to fractures;HP:0002659 17277775;18566967;36833249 False 3 100;0;0 1.0 True ENSG00000117385 ENSG00000117385 HGNC:19316 P4HB gene P4HB Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cole-Carpenter syndrome 1, MIM#112240 Increased susceptibility to fractures;HP:0002659 30063094;29263160;25683117;29384951 False 3 100;0;0 1.0 True ENSG00000185624 ENSG00000185624 HGNC:8548 PLOD2 gene PLOD2 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 2, MIM# 609220 Increased susceptibility to fractures;HP:0002659 12881513;15523624;22689593 False 3 100;0;0 1.0 True ENSG00000152952 ENSG00000152952 HGNC:9082 PLS3 gene PLS3 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked osteoporosis with fractures MONDO:0018315 Increased susceptibility to fractures;HP:0002659 24088043 False 3 100;0;0 1.0 True ENSG00000102024 ENSG00000102024 HGNC:9091 PPIB gene PPIB Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type IX, MIM# 259440 Increased susceptibility to fractures;HP:0002659 19781681;32392875 False 3 100;0;0 1.0 True ENSG00000166794 ENSG00000166794 HGNC:9255 SEC24D gene SEC24D Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Cole-Carpenter syndrome 2, MIM# 616294 Increased susceptibility to fractures;HP:0002659 30462379;27942778;26467156;25683121 False 3 100;0;0 1.0 True ENSG00000150961 ENSG00000150961 HGNC:10706 SERPINF1 gene SERPINF1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VI, MIM# 613982 Increased susceptibility to fractures;HP:0002659 28689307 False 3 100;0;0 1.0 True ENSG00000132386 ENSG00000132386 HGNC:8824 SERPINH1 gene SERPINH1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Osteogenesis imperfecta, type X, MIM# 613848" Increased susceptibility to fractures;HP:0002659 33524049 False 3 100;0;0 1.0 True ENSG00000149257 ENSG00000149257 HGNC:1546 SGMS2 gene SGMS2 Expert list;Expert Review Green Osteogenesis Imperfecta and Osteoporosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550 Increased susceptibility to fractures;HP:0002659 30779713;32028018 False 3 100;0;0 1.0 True ENSG00000164023 ENSG00000164023 HGNC:28395 SP7 gene SP7 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta type 12, MONDO:0013460;Osteogenesis imperfecta, type XII, OMIM:613849 Increased susceptibility to fractures;HP:0002659 20579626;29382611;35367406;34091789;32413570 False 3 100;0;0 1.0 True ENSG00000170374 ENSG00000170374 HGNC:17321 SPARC gene SPARC Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVII, MIM# 616507 Increased susceptibility to fractures;HP:0002659 26027498;34462290 False 3 100;0;0 1.0 True ENSG00000113140 ENSG00000113140 HGNC:11219 TMEM38B gene TMEM38B Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIV , MIM#615066 Increased susceptibility to fractures;HP:0002659 23054245;28323974 False 3 100;0;0 1.0 True ENSG00000095209 ENSG00000095209 HGNC:25535 TRPV6 gene TRPV6 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hyperparathyroidism, transient neonatal, MIM# 618188 Increased susceptibility to fractures;HP:0002659 29861107 False 3 100;0;0 1.0 True ENSG00000165125 ENSG00000165125 HGNC:14006 WNT1 gene WNT1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Osteogenesis imperfecta, type XV, MIM# 615220 Increased susceptibility to fractures;HP:0002659 23499309;23499310;23656646;26671912 False 3 100;0;0 1.0 True ENSG00000125084 ENSG00000125084 HGNC:12774 WNT11 gene WNT11 Expert Review Green;Literature Osteogenesis Imperfecta and Osteoporosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteoporosis, MONDO:0005298, WNT11-related Increased susceptibility to fractures;HP:0002659 34875064 False 3 100;0;0 1.0 True ENSG00000085741 ENSG00000085741 HGNC:12776 XYLT2 gene XYLT2 Expert list;Expert Review Green Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome MIM#605822 Increased susceptibility to fractures;HP:0002659 26027496;26987875 False 3 100;0;0 1.0 True ENSG00000015532 ENSG00000015532 HGNC:15517 MBTPS2 gene MBTPS2 Expert list;Expert Review Amber Osteogenesis Imperfecta and Osteoporosis Skeletal disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Osteogenesis imperfecta, type XIX, MIM# 301014" Increased susceptibility to fractures;HP:0002659 27380894 False 2 0;100;0 1.0 True ENSG00000012174 ENSG00000012174 HGNC:15455 PHLDB1 gene PHLDB1 Expert Review Amber;Literature Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XXIII, MIM# 620639 Increased susceptibility to fractures;HP:0002659 36543534 False 2 0;100;0 1.0 True ENSG00000019144 ENSG00000019144 HGNC:23697 SUCO gene SUCO Expert list;Expert Review Amber Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta Increased susceptibility to fractures;HP:0002659 29620724;20440000 False 2 0;100;0 1.0 True ENSG00000094975 ENSG00000094975 HGNC:1240 TAPT1 gene TAPT1 Expert Review Amber;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) Increased susceptibility to fractures;HP:0002659 26365339;36697720;36652330 False 2 0;100;0 1.0 True ENSG00000169762 ENSG00000169762 HGNC:26887 UNC45A gene UNC45A Expert Review Amber;Victorian Clinical Genetics Services Osteogenesis Imperfecta and Osteoporosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteootohepatoenteric syndrome, MIM# 619377;cholestasis;congenital diarrhea;impaired hearing;bone fragility Increased susceptibility to fractures;HP:0002659 29429573 False 2 0;100;0 1.0 True ENSG00000140553 ENSG00000140553 HGNC:30594 WNT4 gene WNT4 Expert list Osteogenesis Imperfecta and Osteoporosis Skeletal disorders Unknown Osteoporosis Increased susceptibility to fractures;HP:0002659 25108526;26733379 False 1 0;0;100 1.0 False ENSG00000162552 ENSG00000162552 HGNC:12783