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 MBTPS2 gene MBTPS2 Expert list;Expert Review Amber Osteogenesis imperfecta Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Osteogenesis imperfecta, type XIX, OMIM:301014;osteogenesis imperfecta, type 19, MONDO:0049223 27380894;34093655 False 2 25;75;0 5.5 False ENSG00000012174 ENSG00000012174 HGNC:15455 NUDT6 gene NUDT6 Expert list;Expert Review Amber;NHS GMS Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal recurrent fractures, accompanied with other skeletal manifestations including short-limb dwarfism, mild frontal bossing, bowing of legs and scoliosis. Essawi et al A homozygous missense variant in NUDT6 is responsible for an autosomal recessive form of osteogenesis imperfecta. False 2 0;100;0 5.5 False ENSG00000170917 ENSG00000170917 HGNC:8053 SGMS2 gene SGMS2 Expert list;Expert Review Amber Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550;calvarial doughnut lesions-bone fragility syndrome, MONDO:0007470 30779713;32028018 False 2 50;50;0 5.5 False ENSG00000164023 ENSG00000164023 HGNC:28395 SUCO gene SUCO Expert Review Amber;Literature Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, MONDO:0019019;skeletal dysplasia, HP:0002652;osteopenia 29620724;20440000 False 2 0;100;0 5.5 False ENSG00000094975 ENSG00000094975 HGNC:1240 ACAN gene ACAN Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Spondyloepiphyseal dysplasia, Kimberley type, 608361;Spondyloepimetaphyseal dysplasia, aggrecan type, 612813;Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800; Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800;Disproportionate Short Stature False 1 0;0;100 5.5 True ENSG00000157766 ENSG00000157766 HGNC:319 ANKH gene ANKH Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias;Disproportionate Short Stature False 1 0;0;100 5.5 True ENSG00000154122 ENSG00000154122 HGNC:15492 ANO5 gene ANO5 Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias;Disproportionate Short Stature False 1 0;0;100 5.5 True ENSG00000171714 ENSG00000171714 HGNC:27337 ATP6V0A2 gene ATP6V0A2 Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000185344 ENSG00000185344 HGNC:18481 B3GAT3 gene B3GAT3 Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 False 1 0;0;100 5.5 False ENSG00000149541 ENSG00000149541 HGNC:923 CLCN5 gene CLCN5 Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 True ENSG00000171365 ENSG00000171365 HGNC:2023 COL10A1 gene COL10A1 Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Disproportionate Short Stature False 1 50;0;50 5.5 True ENSG00000123500 ENSG00000123500 HGNC:2185 COL11A1 gene COL11A1 Emory Genetics Laboratory;Expert Review Red;NHS GMS Osteogenesis imperfecta Musculoskeletal Disproportionate Short Stature;ibrochondrogenesis 1228520;Stickler syndrome, type II 604841;Marshall Syndrome 154780 17236192 False 1 75;25;0 5.5 True ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Emory Genetics Laboratory;Expert Review Red;NHS GMS Osteogenesis imperfecta Musculoskeletal Disproportionate Short Stature;Stickler Syndrome, Type III;Otospondylomegaepiphyseal dysplasia 184840 7859284;9506662;15372529 False 1 75;25;0 5.5 True ENSG00000204248 ENSG00000204248 HGNC:2187 COL12A1 gene COL12A1 Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693); Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353); Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339) False 1 0;0;100 5.5 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL2A1 gene COL2A1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Spondyloperipheral dysplasia, 271700; SED, Namaqualand type; Osteoarthritis with mild chondrodysplasia, 604864; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Platyspondylic skeletal dysplasia, Torrance type, 151210; Otospondylomegaepiphyseal dysplasia, 215150; Avascular necrosis of the femoral head, 608805; Legg-Calve-Perthes disease, 150600; Stickler sydrome, type I, nonsyndromic ocular, 609508; Czech dysplasia, 609162;Disproportionate Short Stature False 1 67;0;33 5.5 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL5A1 gene COL5A1 Expert Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000130635 ENSG00000130635 HGNC:2209 CREBBP gene CREBBP Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Proportionate Short Stature/Small for Gestational Age False 1 50;0;50 5.5 True ENSG00000005339 ENSG00000005339 HGNC:2348 CYP26B1 gene CYP26B1 Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 False 1 0;0;100 5.5 False ENSG00000003137 ENSG00000003137 HGNC:20581 DMP1 gene DMP1 Emory Genetics Laboratory;Expert;Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias;Acromesomelic dysplasia, Hunter-Thompson type, 201250; Brachydactyly, type C, 113100; Chondrodysplasia, Grebe type, 200700; Du Pan syndrome, 228900; Brachydactyly, type A2, 112600; Symphalangism, proximal, 1B, 615298; Multiple synostoses syndrome 2, 610017; {Osteoarthritis-5}, 612400; Brachydactyly, type A1, C, 615072; Hypophosphatemic rickets, AR, 241520 False 1 33;0;67 5.5 False ENSG00000152592 ENSG00000152592 HGNC:2932 DSPP gene DSPP Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentinogenesis imperfecta, Shields type II, 125490;Deafness, autosomal dominant 36, with dentinogenesis, 605594;Dentinogenesis imperfecta, Shields type III, 125500;Dentin dysplasia, type II, 125420 -3;no fractures 29512331;27973701 False 1 40;0;60 5.5 True ENSG00000152591 ENSG00000152591 HGNC:3054 ENPP1 gene ENPP1 Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000197594 ENSG00000197594 HGNC:3356 ESR1 gene ESR1 Expert;Expert Review Red Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000091831 ENSG00000091831 HGNC:3467 FGF23 gene FGF23 Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 33;0;67 5.5 True ENSG00000118972 ENSG00000118972 HGNC:3680 GHR gene GHR Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Laron dwarfism, 262500; Short stature, 604271; {Hypercholesterolemia, familial, modification of}, 143890; Increased responsiveness to growth hormone;Proportionate Short Stature/Small for Gestational Age False 1 0;0;100 5.5 True ENSG00000112964 ENSG00000112964 HGNC:4263 GNAS gene GNAS Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNPTAB gene GNPTAB Expert Review;Expert Review Red Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal I-cell disease (Mucolipidosis Type II) False 1 0;0;0 5.5 True ENSG00000111670 ENSG00000111670 HGNC:29670 GSC gene GSC Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, False 1 0;0;100 5.5 False ENSG00000133937 ENSG00000133937 HGNC:4612 LMNA gene LMNA Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000160789 ENSG00000160789 HGNC:6636 LRP4 gene LRP4 Expert Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000134569 ENSG00000134569 HGNC:6696 LRP6 gene LRP6 Expert Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000070018 ENSG00000070018 HGNC:6698 MAFB gene MAFB Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000204103 ENSG00000204103 HGNC:6408 MATN3 gene MATN3 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Epiphyseal dysplasia, multiple, 5, 607078; {Osteoarthritis susceptibility 2}, 140600; Spondyloepimetaphyseal dysplasia, 608728; ;Disproportionate Short Stature False 1 0;0;100 5.5 True ENSG00000132031 ENSG00000132031 HGNC:6909 MMP2 gene MMP2 Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000087245 ENSG00000087245 HGNC:7166 OFD1 gene OFD1 Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Oral-Facial-Digital Syndrome False 1 0;0;100 5.5 False ENSG00000046651 ENSG00000046651 HGNC:2567 PAX3 gene PAX3 Illumina TruGenome Clinical Sequencing Services Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniofacial-Deafness-Hand Syndrome False 1 0;0;100 5.5 False ENSG00000135903 ENSG00000135903 HGNC:8617 PHEX gene PHEX Emory Genetics Laboratory;Expert;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 33;0;67 5.5 True ENSG00000102174 ENSG00000102174 HGNC:8918 PLOD1 gene PLOD1 Expert Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000083444 ENSG00000083444 HGNC:9081 POC1A gene POC1A Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 False 1 0;0;100 5.5 False ENSG00000164087 ENSG00000164087 HGNC:24488 PTPRQ gene PTPRQ Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 False 1 0;0;100 5.5 False ENSG00000139304 ENSG00000139304 HGNC:9679 PYCR1 gene PYCR1 Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 50;0;50 5.5 True ENSG00000183010 ENSG00000183010 HGNC:9721 SHOX gene SHOX Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Langer mesomelic dysplasia, OMIM:249700 (PR);Leri-Weill dyschondrosteosis, OMIM:127300 (PD);Short stature, idiopathic familial, OMIM:300582;Dorsolateral bowed, short radii;Bowing and curving of radius;Radioulnar shortening False 1 0;0;100 5.5 True ENSG00000185960 ENSG00000185960 HGNC:10853 SLC34A3 gene SLC34A3 Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 50;0;50 5.5 True ENSG00000198569 ENSG00000198569 HGNC:20305 SOST gene SOST Expert Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000167941 ENSG00000167941 HGNC:13771 TDP2 gene TDP2 Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Dentinogenesis imperfecta, Shields type II, 125490 False 1 0;0;100 5.5 False ENSG00000111802 ENSG00000111802 HGNC:17768 TMCO1 gene TMCO1 Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, False 1 0;0;100 5.5 False ENSG00000143183 ENSG00000143183 HGNC:18188 TNFRSF11A gene TNFRSF11A Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 50;0;50 5.5 True ENSG00000141655 ENSG00000141655 HGNC:11908 TNXB gene TNXB Expert Osteogenesis imperfecta Musculoskeletal 26799614 False 1 0;0;100 5.5 False ENSG00000168477 ENSG00000168477 HGNC:11976 TREM2 gene TREM2 Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000095970 ENSG00000095970 HGNC:17761 TRMT10A gene TRMT10A Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Microcephaly, short stature and impaired glucose metabolism, 616033 False 1 0;0;100 5.5 False ENSG00000145331 ENSG00000145331 HGNC:28403 TYROBP gene TYROBP Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000011600 ENSG00000011600 HGNC:12449 VDR gene VDR Expert Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000111424 ENSG00000111424 HGNC:12679 ZMPSTE24 gene ZMPSTE24 Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000084073 ENSG00000084073 HGNC:12877