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 Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000162551 ENSG00000162551 HGNC:438 BMP1 gene BMP1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000168487 ENSG00000168487 HGNC:1067 COL1A1 gene COL1A1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000164692 ENSG00000164692 HGNC:2198 CREB3L1 gene CREB3L1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000157613 ENSG00000157613 HGNC:18856 CRTAP gene CRTAP Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000170275 ENSG00000170275 HGNC:2379 FKBP10 gene FKBP10 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000141756 ENSG00000141756 HGNC:18169 IFITM5 gene IFITM5 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000206013 ENSG00000206013 HGNC:16644 LRP5 gene LRP5 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000162337 ENSG00000162337 HGNC:6697 P3H1 gene P3H1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000117385 ENSG00000117385 HGNC:19316 PLOD2 gene PLOD2 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000152952 ENSG00000152952 HGNC:9082 PLS3 gene PLS3 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000102024 ENSG00000102024 HGNC:9091 PPIB gene PPIB Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000166794 ENSG00000166794 HGNC:9255 SERPINF1 gene SERPINF1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000132386 ENSG00000132386 HGNC:8824 SERPINH1 gene SERPINH1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000149257 ENSG00000149257 HGNC:1546 SP7 gene SP7 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000170374 ENSG00000170374 HGNC:17321 TMEM38B gene TMEM38B Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000095209 ENSG00000095209 HGNC:25535 WNT1 gene WNT1 Expert Review Green;Victorian Clinical Genetics Services Osteogenesis imperfecta Victorian Clinical Genetics Services Skeletal dysplasias Skeletal disorders False 3 0;0;0 0.4 False ENSG00000125084 ENSG00000125084 HGNC:12774