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;NHS GMS Osteopetrosis Musculoskeletal 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 OMIM:300373 False 3 0;0;0 1.38 False ENSG00000184675 ENSG00000184675 HGNC:26837 ANKH gene ANKH Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chondrocalcinosis 2 OMIM:118600;Craniometaphyseal dysplasia OMIM:123000 False 3 0;0;0 1.38 False ENSG00000154122 ENSG00000154122 HGNC:15492 CA2 gene CA2 Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis OMIM:259730 False 3 0;0;0 1.38 False ENSG00000104267 ENSG00000104267 HGNC:1373 CLCN7 gene CLCN7 Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4, OMIM:611490;Osteopetrosis, autosomal dominant 2, OMIM:166600 False 3 0;0;0 1.38 False ENSG00000103249 ENSG00000103249 HGNC:2025 CTSK gene CTSK Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis OMIM:265800 False 3 0;0;0 1.38 False ENSG00000143387 ENSG00000143387 HGNC:2536 FAM20C gene FAM20C Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Raine syndrome OMIM:259775 False 3 0;0;0 1.38 False ENSG00000177706 ENSG00000177706 HGNC:22140 FERMT3 gene FERMT3 Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, type III OMIM:612840 18709451 False 3 0;0;0 1.38 False ENSG00000149781 ENSG00000149781 HGNC:23151 LEMD3 gene LEMD3 Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteopoikilosis with or without melorheostosis OMIM:166700;Buschke-Ollendorff syndrome OMIM:166700 False 3 0;0;0 1.38 False ENSG00000174106 ENSG00000174106 HGNC:28887 LRP5 gene LRP5 Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteopetrosis, autosomal dominant 1 OMIM:607634;Osteosclerosis OMIM:144750;Hyperostosis, endosteal OMIM:144750;[Bone mineral density variability 1] OMIM:601884;van Buchem disease, type 2 OMIM:607636 False 3 0;0;0 1.38 False ENSG00000162337 ENSG00000162337 HGNC:6697 OSTM1 gene OSTM1 Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5 OMIM:259720 False 3 0;0;0 1.38 False ENSG00000081087 ENSG00000081087 HGNC:21652 PTH1R gene PTH1R Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Chondrodysplasia, Blomstrand type OMIM:215045;Metaphyseal chondrodysplasia, Murk Jansen type OMIM:156400 False 3 0;0;0 1.38 False ENSG00000160801 ENSG00000160801 HGNC:9608 RASGRP2 gene RASGRP2 Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal osteopetrosis (disease) MONDO:0017198 18709451 False 3 0;0;100 1.38 False ENSG00000068831 ENSG00000068831 HGNC:9879 SNX10 gene SNX10 Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 8 OMIM:615085 False 3 0;0;0 1.38 False ENSG00000086300 ENSG00000086300 HGNC:14974 SOST gene SOST Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sclerosteosis 1 OMIM:269500;Craniodiaphyseal dysplasia, autosomal dominant OMIM:122860;Van Buchem disease OMIM:239100 False 3 0;0;0 1.38 False ENSG00000167941 ENSG00000167941 HGNC:13771 TCIRG1 gene TCIRG1 Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1 OMIM:259700 28816234 False 3 0;0;0 1.38 False ENSG00000110719 ENSG00000110719 HGNC:11647 TGFB1 gene TGFB1 Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Camurati-Engelmann disease, OMIM:131300 False 3 0;0;0 1.38 False ENSG00000105329 ENSG00000105329 HGNC:11766 TNFRSF11A gene TNFRSF11A Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Paget disease of bone 2, early-onset} OMIM:602080;Osteopetrosis, autosomal recessive 7 OMIM:612301 False 3 0;0;0 1.38 False ENSG00000141655 ENSG00000141655 HGNC:11908 TNFSF11 gene TNFSF11 Expert Review Green;NHS GMS Osteopetrosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2 OMIM:259710 False 3 0;0;0 1.38 False ENSG00000120659 ENSG00000120659 HGNC:11926 PLEKHM1 gene PLEKHM1 Expert Review Amber;NHS GMS Osteopetrosis Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Osteopetrosis, autosomal recessive 6 OMIM:611497;Osteopetrosis, autosomal dominant 3 OMIM:618107 17404618;17997709;21054159;27291868;28290981;32415263 False 2 0;0;0 1.38 False ENSG00000225190 ENSG00000225190 HGNC:29017 TYROBP gene TYROBP Expert Review Red;NHS GMS Osteopetrosis Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 False 1 0;0;100 1.38 False ENSG00000011600 ENSG00000011600 HGNC:12449