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 AMER1 gene AMER1 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 100;0;0 0.34 False ENSG00000184675 ENSG00000184675 HGNC:26837 ANKH gene ANKH Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 100;0;0 0.34 False ENSG00000154122 ENSG00000154122 HGNC:15492 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 0.34 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 0.34 True ENSG00000103249 ENSG00000103249 HGNC:2025 CTSK gene CTSK Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 100;0;0 0.34 False 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 0.34 True ENSG00000152592 ENSG00000152592 HGNC:2932 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 0.34 True ENSG00000177706 ENSG00000177706 HGNC:22140 FERMT3 gene FERMT3 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 100;0;0 0.34 False ENSG00000149781 ENSG00000149781 HGNC:23151 IKBKG gene IKBKG Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 100;0;0 0.34 False 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 0.34 True ENSG00000174106 ENSG00000174106 HGNC:28887 LRP5 gene LRP5 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 100;0;0 0.34 False ENSG00000162337 ENSG00000162337 HGNC:6697 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 0.34 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 0.34 True ENSG00000225190 ENSG00000225190 HGNC:29017 PTH1R gene PTH1R Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 100;0;0 0.34 False ENSG00000160801 ENSG00000160801 HGNC:9608 SGMS2 gene SGMS2 Expert Review Green;Literature Osteopetrosis Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550 Increased bone mineral density;HP:0011001 30779713;32028018 False 3 100;0;0 0.34 True ENSG00000164023 ENSG00000164023 HGNC:28395 SNX10 gene SNX10 Expert list;Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 100;0;0 0.34 False ENSG00000086300 ENSG00000086300 HGNC:14974 SOST gene SOST Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 100;0;0 0.34 False ENSG00000167941 ENSG00000167941 HGNC:13771 TCIRG1 gene TCIRG1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 100;0;0 0.34 False ENSG00000110719 ENSG00000110719 HGNC:11647 TGFB1 gene TGFB1 Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 100;0;0 0.34 False 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 0.34 True ENSG00000126106 ENSG00000126106 HGNC:26186 TNFRSF11A gene TNFRSF11A Expert list;Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 100;0;0 0.34 False 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 0.34 True ENSG00000120659 ENSG00000120659 HGNC:11926 TYROBP gene TYROBP Expert Review Green;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders Unknown Increased bone mineral density;HP:0011001 False 3 0;0;100 0.34 False ENSG00000011600 ENSG00000011600 HGNC:12449 SLC4A2 gene SLC4A2 Expert Review Amber;Literature Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Osteopetrosis, autosomal recessive 9, MIM# 620366" Increased bone mineral density;HP:0011001 34668226;20507629 False 2 0;100;0 0.34 True ENSG00000164889 ENSG00000164889 HGNC:11028 RASGRP2 gene RASGRP2 Expert Review Red;Victorian Clinical Genetics Services Osteopetrosis Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 18 - MIM#615888;Osteopetrosis (disease) MONDO:0017198 Increased bone mineral density;HP:0011001 18709451 False 1 0;50;50 0.34 True ENSG00000068831 ENSG00000068831 HGNC:9879