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 Emory Genetics Laboratory;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypophosphatasia, adult, OMIM:146300;Hypophosphatasia, childhood, OMIM:241510;Hypophosphatasia, infantile, OMIM:241500 10737975 False 3 60;20;20 5.5 True ENSG00000162551 ENSG00000162551 HGNC:438 B3GALT6 gene B3GALT6 Emory Genetics Laboratory;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Disproportionate Short Stature 23664117;23664118 False 3 75;25;0 5.5 True ENSG00000176022 ENSG00000176022 HGNC:17978 B4GALT7 gene B4GALT7 Emory Genetics Laboratory;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis Imperfecta and Decreased Bone Density;skeletal dysplasias;Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070 15211654;26940150;3631078 False 3 50;25;25 5.5 True ENSG00000027847 ENSG00000027847 HGNC:930 BMP1 gene BMP1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIII, 614856;Osteogenesis Imperfecta, Recessive False 3 80;20;0 5.5 True ENSG00000168487 ENSG00000168487 HGNC:1067 CASR gene CASR Emory Genetics Laboratory;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Osteogenesis Imperfecta and Decreased Bone Density;skeletal dysplasias;neonatal severe hyperparathyroidism 239200;severe hypercalcemia, bone demineralization, multiple fractures;familial hypocalciuric hypercalcemia 22620673 False 3 20;20;60 5.5 True ENSG00000036828 ENSG00000036828 HGNC:1514 COL1A1 gene COL1A1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteogenesis imperfecta, type I, 166200; OI type II, 166210; OI type III, 259420; OI type IV, 166220; Ehlers-Danlos syndrome, type I, 130000; Ehlers-Danlos syndrome, type VIIA, 130060; {Osteoporosis}, 166710; Caffey disease, 114000;Osteogenesis Imperfecta, Dominant;Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias;Osteogenesis Imperfecta, Type IV; Osteogenesis Imperfecta, Type II; Osteogenesis Imperfecta, Type III;Disproportionate Short Stature False 3 80;20;0 5.5 True ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, type VIIB, 130060; Osteogenesis imperfecta, type IV, 166220; Osteogenesis imperfecta, type III, 259420; Osteogenesis imperfecta, type II, 166210; {Osteoporosis, postmenopausal}, 166710; Ehlers-Danlos syndrome, cardi;Osteogenesis Imperfecta, Dominant;Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias;Osteogenesis Imperfecta, Type IV; Osteogenesis Imperfecta, Type II; Osteogenesis Imperfecta, Type III False 3 80;20;0 5.5 True ENSG00000164692 ENSG00000164692 HGNC:2198 COPB2 gene COPB2 Expert list;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted juvenile osteoporosis;Osteopenia;Osteoporosis;recurrent fractures 34450031;29036432 False 3 67;33;0 5.5 False ENSG00000184432 ENSG00000184432 HGNC:2232 CREB3L1 gene CREB3L1 Expert Review;Expert Review Green;Literature;NHS GMS Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVI 616229 24079343;28817112;29936144;30657919 False 3 50;25;25 5.5 False ENSG00000157613 ENSG00000157613 HGNC:18856 CRTAP gene CRTAP Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII, 610682;Osteogenesis Imperfecta, Recessive;Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias;Osteogenesis Imperfecta Types VII, VIII And IX False 3 80;20;0 5.5 True ENSG00000170275 ENSG00000170275 HGNC:2379 FAM46A gene FAM46A Expert list;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVIII, OMIM:617952;osteogenesis imperfecta, type 18, MONDO:0044329 29358272 False 3 80;20;0 5.5 False ENSG00000112773 ENSG00000112773 HGNC:18345 FKBP10 gene FKBP10 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XI, 610968;Osteogenesis Imperfecta, Recessive;Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 3 80;20;0 5.5 True ENSG00000141756 ENSG00000141756 HGNC:18169 GORAB gene GORAB Emory Genetics Laboratory;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis Imperfecta and Decreased Bone Density;skeletal dysplasias;congenital wrinkly skin;prematurely aged face;extremely short stature;osteoporosis leading to recurrent fractures 18997784;28807865 False 3 25;25;50 5.5 False ENSG00000120370 ENSG00000120370 HGNC:25676 IFITM5 gene IFITM5 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta, type V, 610967;Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias;c-14C>T IFITM5 testing False 3 80;20;0 5.5 True ENSG00000206013 ENSG00000206013 HGNC:16644 KDELR2 gene KDELR2 Expert Review Green;Literature Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XXI, OMIM:619131;Increased susceptibility to fractures;Joint hypermobility;Scoliosis;Bowing of the legs and arms 33053334;33964184 False 3 100;0;0 5.5 False ENSG00000136240 ENSG00000136240 HGNC:6305 KIF5B gene KIF5B Expert Review Green;Literature;NHS GMS Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted osteogenesis imperfecta, MONDO:0019019 37934770 False 3 100;0;0 5.5 False ENSG00000170759 ENSG00000170759 HGNC:6324 LRP5 gene LRP5 Emory Genetics Laboratory;Expert;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 3 75;25;0 5.5 True ENSG00000162337 ENSG00000162337 HGNC:6697 MESD gene MESD Expert Review Green;Literature Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XX, OMIM:618644;Osteogenesis imperfecta, type 20, MONDO:0032846 31564437;33596325 False 3 100;0;0 5.5 False ENSG00000117899 ENSG00000117899 HGNC:13520 NBAS gene NBAS Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800;bone fragility;immunodeficiency;developmental delay 27789416 False 3 25;25;50 5.5 False ENSG00000151779 ENSG00000151779 HGNC:15625 NOTCH2 gene NOTCH2 Emory Genetics Laboratory;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 3 50;25;25 5.5 True ENSG00000134250 ENSG00000134250 HGNC:7882 P3H1 gene P3H1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VIII, 610915;Osteogenesis Imperfecta, Recessive;Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias;Osteogenesis Imperfecta Types VII, VIII And IX False 3 80;20;0 5.5 True ENSG00000117385 ENSG00000117385 HGNC:19316 P4HB gene P4HB Expert Review;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cole-Carpenter syndrome 1, OMIM:112240;Cole-Carpenter syndrome 1, MONDO:000720 25683117 False 3 75;25;0 5.5 True Other - please provide details in the comments ENSG00000185624 ENSG00000185624 HGNC:8548 PLOD2 gene PLOD2 Emory Genetics Laboratory;Expert;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis Imperfecta and Decreased Bone Density;skeletal dysplasias;Bruck syndrome;osteogenesis imperfecta 22689593 False 3 75;25;0 5.5 True ENSG00000152952 ENSG00000152952 HGNC:9082 PLS3 gene PLS3 Expert Review;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked osteoporosis and fractures;X-linked osteoporosis and fractures;X-linked Osteoporosis PMID: 24088043;24616189 False 3 75;25;0 5.5 True ENSG00000102024 ENSG00000102024 HGNC:9091 PPIB gene PPIB Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type IX, 259440;Osteogenesis Imperfecta, Recessive;Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias;Osteogenesis Imperfecta Types VII, VIII And IX False 3 80;20;0 5.5 True ENSG00000166794 ENSG00000166794 HGNC:9255 SEC24D gene SEC24D Expert Review;Expert Review Green;Literature;NHS GMS Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cole-Carpenter syndrome;Osteogenesis Imperfecta, Cole Carpenter syndrome;SYNDROMIC OSTEOGENESIS IMPERFECTA 25683121 False 3 75;25;0 5.5 True ENSG00000150961 ENSG00000150961 HGNC:10706 SERPINF1 gene SERPINF1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VI, 613982;Osteogenesis Imperfecta, Recessive;osteogenesis imperfecta 23054245;21353196 False 3 75;25;0 5.5 True ENSG00000132386 ENSG00000132386 HGNC:8824 SERPINH1 gene SERPINH1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal {Preterm premature rupture of the membranes, susceptibility to}, 610504;Osteogenesis imperfecta, type X, 613848;Osteogenesis Imperfecta, Recessive;Osteogenesis Imperfecta and Decreased Bone Density;skeletal dysplasias False 3 80;20;0 5.5 True ENSG00000149257 ENSG00000149257 HGNC:1546 SP7 gene SP7 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XII, 613849;Osteogenesis Imperfecta, Recessive;Osteogenesis Imperfecta and Decreased Bone Density;skeletal dysplasias False 3 80;20;0 5.5 True ENSG00000170374 ENSG00000170374 HGNC:17321 SPARC gene SPARC Expert Review;Expert Review Green;Literature;NHS GMS Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVII, OMIM:616507 26027498;34462290 False 3 80;20;0 5.5 True ENSG00000113140 ENSG00000113140 HGNC:11219 TAPT1 gene TAPT1 Expert Review;Expert Review Green;NHS GMS Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis Imperfecta PMID:26365339 False 3 50;50;0 5.5 True ENSG00000169762 ENSG00000169762 HGNC:26887 TMEM38B gene TMEM38B Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIV, OMIM:615066;Osteogenesis imperfecta type 14, MONDO:0014029 23316006;23054245 False 3 75;25;0 5.5 True ENSG00000095209 ENSG00000095209 HGNC:25535 TRPV6 gene TRPV6 Expert Review Green;Literature;NHS GMS Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Hyperparathyroidism, transient neonatal, 618188 29861107 False 3 67;33;0 5.5 True ENSG00000165125 ENSG00000165125 HGNC:14006 UNC45A gene UNC45A Expert list;Expert Review Green Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteootohepatoenteric syndrome, OMIM:619377 29429573 False 3 67;33;0 5.5 False ENSG00000140553 ENSG00000140553 HGNC:30594 WNT1 gene WNT1 Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Osteogenesis imperfecta, type XV, OMIM:615220;{Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221 23434763;2349931 False 3 75;25;0 5.5 True ENSG00000125084 ENSG00000125084 HGNC:12774 WNT11 gene WNT11 Expert Review Green;Literature;NHS GMS Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown osteoporosis, MONDO:0005298;osteoarthritis, MONDO:0005178;recurrent fractures 34875064 False 3 100;0;0 5.5 False ENSG00000085741 ENSG00000085741 HGNC:12776