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 MBTPS2 gene MBTPS2 Expert list;Expert Review Amber Osteogenesis imperfecta Skeletal dysplasias Skeletal disorders 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 4.4 False ENSG00000012174 ENSG00000012174 HGNC:15455 NUDT6 gene NUDT6 Expert list;Expert Review Amber;NHS GMS Osteogenesis imperfecta Skeletal dysplasias Skeletal disorders 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 4.4 False ENSG00000170917 ENSG00000170917 HGNC:8053 SGMS2 gene SGMS2 Expert list;Expert Review Amber Osteogenesis imperfecta Skeletal dysplasias Skeletal disorders 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 4.4 False ENSG00000164023 ENSG00000164023 HGNC:28395 SUCO gene SUCO Expert Review Amber;Literature Osteogenesis imperfecta Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, MONDO:0019019;skeletal dysplasia, HP:0002652;osteopenia 29620724;20440000 False 2 0;100;0 4.4 False ENSG00000094975 ENSG00000094975 HGNC:1240 WNT11 gene WNT11 Expert Review Amber;Literature Osteogenesis imperfecta Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown osteoporosis, MONDO:0005298;osteoarthritis, MONDO:0005178;recurrent fractures 34875064 False 2 100;0;0 4.4 False ENSG00000085741 ENSG00000085741 HGNC:12776