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 ADAMTSL2 gene ADAMTSL2 Expert Review Green;Literature Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356) Increased bone mineral density;HP:0011001 36896612 False 3 100;0;0 1.0 True ENSG00000197859 ENSG00000197859 HGNC:14631 AMER1 gene AMER1 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Osteopathia striata with cranial sclerosis, MIM# 300373;MONDO:0010310 Increased bone mineral density;HP:0011001 27369646;33856753;35186393;20209645;19079258 False 3 100;0;0 1.0 True ENSG00000184675 ENSG00000184675 HGNC:26837 ANKH gene ANKH Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted craniometaphyseal dysplasia MONDO:0015465 Increased bone mineral density;HP:0011001 20301634;20358596 False 3 100;0;0 1.0 True ENSG00000154122 ENSG00000154122 HGNC:15492 AXIN1 gene AXIN1 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558 Increased bone mineral density;HP:0011001 9335612;37582359 False 3 100;0;0 1.0 True ENSG00000103126 ENSG00000103126 HGNC:903 CA2 gene CA2 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Increased bone mineral density;HP:0011001 False 3 100;0;0 1.0 True ENSG00000104267 ENSG00000104267 HGNC:1373 CLCN7 gene CLCN7 Expert list;Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4, MIM#611490 Increased bone mineral density;HP:0011001 11207362;15231021;17033731;19507210;32048120 False 3 100;0;0 1.0 True ENSG00000103249 ENSG00000103249 HGNC:2025 CSF1R gene CSF1R Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476;BANDDOS Increased bone mineral density;HP:0011001 30982609;33749994;34135456 False 3 100;0;0 1.0 True ENSG00000182578 ENSG00000182578 HGNC:2433 CTSK gene CTSK Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal pycnodysostosis MONDO:0009940 Increased bone mineral density;HP:0011001 19232111;34777883;32984533;24269275 False 3 100;0;0 1.0 True ENSG00000143387 ENSG00000143387 HGNC:2536 DMP1 gene DMP1 Expert Review;Expert Review Green Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphataemic rickets, MIM#600980 Increased bone mineral density;HP:0011001 17033625 False 3 100;0;0 1.0 True ENSG00000152592 ENSG00000152592 HGNC:2932 DVL1 gene DVL1 Expert Review Green;Literature Osteopetrosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Robinow syndrome, autosomal dominant 2, MIM# 616331" Increased bone mineral density;HP:0011001 25817014 False 3 100;0;0 1.0 True ENSG00000107404 ENSG00000107404 HGNC:3084 FAM20C gene FAM20C Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Raine syndrome, MIM# 259775;MONDO:0009821 Increased bone mineral density;HP:0011001 19250384;32299476;20825432;33676444;32833257 False 3 100;0;0 1.0 True ENSG00000177706 ENSG00000177706 HGNC:22140 FERMT3 gene FERMT3 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal leukocyte adhesion deficiency 3 MONDO:0013016 Increased bone mineral density;HP:0011001 19234460;20357244;18278053 False 3 100;0;0 1.0 True ENSG00000149781 ENSG00000149781 HGNC:23151 IKBKG gene IKBKG Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162;incontinentia pigmenti MONDO:0010631 Increased bone mineral density;HP:0011001 20301645;20499091;11242109 False 3 100;0;0 1.0 True ENSG00000073009 ENSG00000269335 HGNC:5961 LEMD3 gene LEMD3 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Buschke-Ollendorff syndrome MIM#166700;Osteopoikilosis with or without melorheostosis MIM#166700 Increased bone mineral density;HP:0011001 34098227;33598273;32519343;32151766;32151766 False 3 100;0;0 1.0 True ENSG00000174106 ENSG00000174106 HGNC:28887 LRP4 gene LRP4 Expert Review Green;Literature Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Sclerosteosis 2, MIM# 614305" Increased bone mineral density;HP:0011001 32286743;35052419;40824295 False 3 100;0;0 1.0 True ENSG00000134569 ENSG00000134569 HGNC:6696 LRP5 gene LRP5 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant osteopetrosis 1 MONDO:0011877 Increased bone mineral density;HP:0011001 37659026;26348019;12054167;12579474 False 3 100;0;0 1.0 True ENSG00000162337 ENSG00000162337 HGNC:6697 LRP6 gene LRP6 Expert List;Expert Review Green Osteopetrosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Osteopetrosis, autosomal dominant 4, MIM# 621449" Increased bone mineral density;HP:0011001 31085352;32730923;37065631;38385987 False 3 100;0;0 1.0 True ENSG00000070018 ENSG00000070018 HGNC:6698 LRRK1 gene LRRK1 Expert Review;Expert Review Green Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198) Increased bone mineral density;HP:0011001 27829680;27055475;31571209;32119750 False 3 100;0;0 1.0 True ENSG00000154237 ENSG00000154237 HGNC:18608 MITF gene MITF Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal COMMAD syndrome, MIM# 617306 Increased bone mineral density;HP:0011001 27889061;32541011 False 3 100;0;0 1.0 True ENSG00000187098 ENSG00000187098 HGNC:7105 OSTM1 gene OSTM1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5 MIM#259720 Increased bone mineral density;HP:0011001 12627228;15108279;16813530;23772242;32048120 False 3 100;0;0 1.0 True ENSG00000081087 ENSG00000081087 HGNC:21652 PLEKHM1 gene PLEKHM1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteopetrosis, autosomal dominant 3, MIM# 618107;Osteopetrosis, autosomal recessive 6 , MIM# 611497 Increased bone mineral density;HP:0011001 27291868;21054159;17997709;17404618;28290981;27777970 False 3 100;0;0 1.0 True ENSG00000225190 ENSG00000225190 HGNC:29017 PTDSS1 gene PTDSS1 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lenz-Majewski hyperostotic dwarfism MIM#151050 Increased bone mineral density;HP:0011001 24241535;29341480;31403251 False 3 100;0;0 1.0 True ENSG00000156471 ENSG00000156471 HGNC:9587 PTH1R gene PTH1R Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia, Blomstrand type, MIM# 215045 Increased bone mineral density;HP:0011001 36159186;37448157;39327493 False 3 100;0;0 1.0 True ENSG00000160801 ENSG00000160801 HGNC:9608 SNX10 gene SNX10 Expert list;Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 8 MIM#615085 Increased bone mineral density;HP:0011001 22499339;23123320;30885997;32048120;32278070 False 3 100;0;0 1.0 True ENSG00000086300 ENSG00000086300 HGNC:14974 SOST gene SOST Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal sclerosteosis 1 MONDO:0010016 Increased bone mineral density;HP:0011001 23079137;36481973;33078679;35208525;36508511 False 3 100;0;0 1.0 True ENSG00000167941 ENSG00000167941 HGNC:13771 TBCE gene TBCE Expert Review Green;Literature Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Kenny-Caffey syndrome, type 1, MIM# 244460" Increased bone mineral density;HP:0011001 26029652;39911167;40369764 False 3 100;0;0 1.0 True ENSG00000116957 ENSG00000116957 HGNC:11582 TBXAS1 gene TBXAS1 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ghosal hematodiaphyseal syndrome, MIM# 231095 Increased bone mineral density;HP:0011001 18264100;27156553;28868793;33244729;33595912;36786374;39220787;39277773 False 3 100;0;0 1.0 True ENSG00000059377 ENSG00000059377 HGNC:11609 TCIRG1 gene TCIRG1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1 MIM#259700 Increased bone mineral density;HP:0011001 10888887;31938717;19507210;32048120 False 3 100;0;0 1.0 True ENSG00000110719 ENSG00000110719 HGNC:11647 TGFB1 gene TGFB1 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Camurati-Engelmann disease MONDO:0007542 Increased bone mineral density;HP:0011001 20301335;30034812;39014191 False 3 100;0;0 1.0 True ENSG00000105329 ENSG00000105329 HGNC:11766 TMEM53 gene TMEM53 Expert Review Green;Literature Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Primary Bone Dysplasia MONDO: 0018230 Increased bone mineral density;HP:0011001 PMID: 33824347 False 3 100;0;0 1.0 True ENSG00000126106 ENSG00000126106 HGNC:26186 TNFRSF11A gene TNFRSF11A Expert list;Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 7 MIM#612301 Increased bone mineral density;HP:0011001 18606301;32048120 False 3 100;0;0 1.0 True ENSG00000141655 ENSG00000141655 HGNC:11908 TNFSF11 gene TNFSF11 Expert list;Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2 MIM#259710 Increased bone mineral density;HP:0011001 17632511;32048120;10984520 False 3 100;0;0 1.0 True ENSG00000120659 ENSG00000120659 HGNC:11926