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 ACAN gene ACAN Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813;Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800 24762113;27870580;19110214;30124491;28331218;20137779 False 3 100;0;0 0.225 True ENSG00000157766 ENSG00000157766 HGNC:319 ACP5 gene ACP5 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944 26854080;26951490;21217755;26789720;2363422;21217752 False 3 100;0;0 0.225 True ENSG00000102575 ENSG00000102575 HGNC:124 ADAMTSL2 gene ADAMTSL2 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Geleophysic dysplasia 1-MIM#231050 20301776;21415077 False 3 100;0;0 0.225 True ENSG00000197859 ENSG00000197859 HGNC:14631 AGPS gene AGPS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3, MIM#600121 False 3 100;0;0 0.225 True ENSG00000018510 ENSG00000018510 HGNC:327 ALG3 gene ALG3 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id - MIM#26126960 26126960;34441372 False 3 100;0;0 0.225 True ENSG00000214160 ENSG00000214160 HGNC:23056 ALG9 gene ALG9 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Il, MIM#608776;Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 28932688;25966638;26453364 False 3 100;0;0 0.225 True ENSG00000086848 ENSG00000086848 HGNC:15672 ALPL gene ALPL Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphatasia, infantile MIM# 241500 19500388;23688511 False 3 100;0;0 0.225 True ENSG00000162551 ENSG00000162551 HGNC:438 ARSE gene ARSE Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive, MIM# 302950 False 3 100;0;0 0.225 True ENSG00000157399 ENSG00000157399 HGNC:719 B3GAT3 gene B3GAT3 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600 26754439;31988067 False 3 100;0;0 0.225 True ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome-MIM#261540 23161355 False 3 100;0;0 0.225 True ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALT7 gene B4GALT7 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 1-MIM#130070 31278392 False 3 100;0;0 0.225 True ENSG00000027847 ENSG00000027847 HGNC:930 BMP1 gene BMP1 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIII , MIM#614856 25402547;22052668;22482805;25214535 False 3 100;0;0 0.225 True ENSG00000168487 ENSG00000168487 HGNC:1067 BMPER gene BMPER Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Diaphanospondylodysostosis, MIM#608022 20869035;30006055 False 3 100;0;0 0.225 True ENSG00000164619 ENSG00000164619 HGNC:24154 C21orf2 gene C21orf2 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, axial, MIM# 602271 26974433;27548899;28422394 False 3 100;0;0 0.225 True ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV, MIM# 615948;MONDO:0014413 24997988;26477546;27094867;30097616;33875766 False 3 67;0;33 0.225 True ENSG00000168014 ENSG00000168014 HGNC:24564 CANT1 gene CANT1 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 1, MIM# 251450 False 3 100;0;0 0.225 True ENSG00000171302 ENSG00000171302 HGNC:19721 CCDC8 gene CCDC8 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 3 - MIM#614205 21737058 False 3 100;0;0 0.225 True ENSG00000169515 ENSG00000169515 HGNC:25367 CEP120 gene CEP120 Expert Review Green;Literature;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 25361962;27208211 False 3 67;33;0 0.225 True ENSG00000168944 ENSG00000168944 HGNC:26690 CHST3 gene CHST3 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations-MIM#143095 15368507;17618475 False 3 100;0;0 0.225 True ENSG00000122863 ENSG00000122863 HGNC:1971 COL11A1 gene COL11A1 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fibrochondrogenesis 1, MIM# 228520;Marshall syndrome, MIM# 154780 False 3 100;0;0 0.225 True ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fibrochondrogenesis 2, MIM# 614524;Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150 False 3 100;0;0 0.225 True ENSG00000204248 ENSG00000204248 HGNC:2187 COL1A1 gene COL1A1 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Caffey disease, MIM#114000;Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060;Osteogenesis imperfecta, type I, MIM#166200;Osteogenesis imperfecta, type II, MIM#166210;Osteogenesis imperfecta, type III, MIM#259420;Osteogenesis imperfecta, type IV, MIM#166220 12362985;28956891 False 3 100;0;0 0.225 True Other ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120;Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821;Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320;Osteogenesis imperfecta, type II, MIM# 166210;Osteogenesis imperfecta, type III, MIM# 259420;Osteogenesis imperfecta, type IV, MIM# 166220 False 3 100;0;0 0.225 True ENSG00000164692 ENSG00000164692 HGNC:2198 COL2A1 gene COL2A1 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Collagenopathy type 2 alpha 1, MONDO:0022800 False 3 100;0;0 0.225 True ENSG00000139219 ENSG00000139219 HGNC:2200 CREB3L1 gene CREB3L1 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVI, 616229 24079343;28817112;29936144;30657919 False 3 100;0;0 0.225 True ENSG00000157613 ENSG00000157613 HGNC:18856 CRTAP gene CRTAP Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII MIM#610682 21955071;19846465;17192541 False 3 100;0;0 0.225 True ENSG00000170275 ENSG00000170275 HGNC:2379 CSPP1 gene CSPP1 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, MIM# 615636;MONDO:0014288 24360808;24360803;24360807;25997910 False 3 100;0;0 0.225 True ENSG00000104218 ENSG00000104218 HGNC:26193 CTSK gene CTSK Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis - MIM#265800 PMID: 33151655 False 3 100;0;0 0.225 True ENSG00000143387 ENSG00000143387 HGNC:2536 CUL7 gene CUL7 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 1 - MIM#273750;Yakut short stature syndrome 20301654;26850509;17675530 False 3 100;0;0 0.225 True ENSG00000044090 ENSG00000044090 HGNC:21024 CYP26B1 gene CYP26B1 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies - MIM# 614416" PMID: 22019272 False 3 100;0;0 0.225 True ENSG00000003137 ENSG00000003137 HGNC:20581 DDR2 gene DDR2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665 19110212;20223752 False 3 100;0;0 0.225 True ENSG00000162733 ENSG00000162733 HGNC:2731 DHCR7 gene DHCR7 Expert list;Expert Review;Expert Review Green;Literature;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, MIM#270400 False 3 75;25;0 0.225 True ENSG00000172893 ENSG00000172893 HGNC:2860 DLL3 gene DLL3 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 10742114;12746394 False 3 100;0;0 0.225 True ENSG00000090932 ENSG00000090932 HGNC:2909 DONSON gene DONSON Expert Review;Expert Review Green Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and limb abnormalities, MIM# 617604;Microcephaly-micromelia syndrome, MIM# 251230;MONDO:0009619 28191891;28630177;28191891 False 3 100;0;0 0.225 True ENSG00000159147 ENSG00000159147 HGNC:2993 DVL1 gene DVL1 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Robinow syndrome, autosomal dominant 2 (MIM#616331) 25817014;25817016 False 3 100;0;0 0.225 True ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 3-MIM#616894 25577943 False 3 100;0;0 0.225 True ENSG00000161202 ENSG00000161202 HGNC:3087 DYNC2H1 gene DYNC2H1 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000138036 ENSG00000138036 HGNC:24595 EBP gene EBP Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000147155 ENSG00000147155 HGNC:3133 EN1 gene EN1 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal ENDOVE syndrome, limb-only type, MIM# 619217;ENDOVE syndrome, limb-brain type, MIM# 619218 33568816 False 3 100;0;0 0.225 True ENSG00000163064 ENSG00000163064 HGNC:3342 ERI1 gene ERI1 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663 37352860 False 3 100;0;0 0.225 True ENSG00000104626 ENSG00000104626 HGNC:23994 EVC gene EVC Expert Review;Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 25;50;25 0.225 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 50;50;0 0.225 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXTL3 gene EXTL3 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities - MIM#617425 PMID: 28132690 False 3 100;0;0 0.225 True ENSG00000012232 ENSG00000012232 HGNC:3518 FAM111A gene FAM111A Expert Review Green;Genomics England PanelApp;Literature;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000166801 ENSG00000166801 HGNC:24725 FAM20C gene FAM20C Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000177706 ENSG00000177706 HGNC:22140 FGFR1 gene FGFR1 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteoglophonic dysplasia-MIM#166250 16470795;15625620;29147600;20339250 False 3 100;0;0 0.225 True ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert list;Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert list;Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000068078 ENSG00000068078 HGNC:3690 FIG4 gene FIG4 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Yunis-Varon syndrome - MIM#216340 31094135;24088667;23623387 False 3 100;0;0 0.225 True ENSG00000112367 ENSG00000112367 HGNC:16873 FKBP10 gene FKBP10 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000141756 ENSG00000141756 HGNC:18169 FLNA gene FLNA Expert list;Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000136068 ENSG00000136068 HGNC:3755 FUZ gene FUZ Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy_MONDO_0005308, FUZ-related;skeletal ciliopathy PMID: 38702430, 29068549, 34719684 False 3 100;0;0 0.225 True ENSG00000010361 ENSG00000010361 HGNC:26219 FZD2 gene FZD2 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Omodysplasia 2, OMIM #164745 25759469, 30455931, 29383834, 29230162, False 3 100;0;0 0.225 True ENSG00000180340 ENSG00000180340 HGNC:4040 GDF5 gene GDF5 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Grebe type chondrodysplasia (MIM#200700);Du Pan syndrome (MIM#228900) 33333243 False 3 100;0;0 0.225 False Other ENSG00000125965 ENSG00000125965 HGNC:4220 GLI3 gene GLI3 Expert list;Expert Review;Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 50;50;0 0.225 False ENSG00000106571 ENSG00000106571 HGNC:4319 GNPAT gene GNPAT Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis II alpha/beta - MIM#252500 20301728 False 3 100;0;0 0.225 True ENSG00000111670 ENSG00000111670 HGNC:29670 GPC6 gene GPC6 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Omodysplasia 1 - MIM#258315 False 3 100;0;0 0.225 True ENSG00000183098 ENSG00000183098 HGNC:4454 GPX4 gene GPX4 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Sedaghatian type-MIM#250220 PMID: 24706940 False 3 100;0;0 0.225 True ENSG00000167468 ENSG00000167468 HGNC:4556 GSC gene GSC Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities - MIM#602471 PMID: 24290375 False 3 100;0;0 0.225 True ENSG00000133937 ENSG00000133937 HGNC:4612 HES7 gene HES7 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000179111 ENSG00000179111 HGNC:15977 HHAT gene HHAT Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Nivelon-Nivelon-Mabille syndrome 600092" 33749989 False 3 100;0;0 0.225 True ENSG00000054392 ENSG00000054392 HGNC:18270 HSPG2 gene HSPG2 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown Schwartz-Jampel syndrome, type 1, MIM#255800;Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410;Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139) 38424183 False 3 100;0;0 0.225 True ENSG00000142798 ENSG00000142798 HGNC:5273 ICK gene ICK Expert list;Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000112144 ENSG00000112144 HGNC:21219 IFITM5 gene IFITM5 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000206013 ENSG00000206013 HGNC:16644 IFT122 gene IFT122 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1, MIM# 218330;MONDO:0021093;Beemer-Langer syndrome 20493458;23826986;26792575;29220510;28370949;27681595;27681595 False 3 100;0;0 0.225 True ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT43 gene IFT43 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000101052 ENSG00000101052 HGNC:15901 IFT74 gene IFT74 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Jeune syndrome (MONDO:0018770), IFT74-related PMID: 37315079 False 3 100;0;0 0.225 True ENSG00000096872 ENSG00000096872 HGNC:21424 IFT80 gene IFT80 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000068885 ENSG00000068885 HGNC:29262 IHH gene IHH Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Acrocapitofemoral dysplasia - MIM#607778;Brachydactyly, type A1 - MIM#112500 PMID: 22406540 False 3 100;0;0 0.225 True ENSG00000163501 ENSG00000163501 HGNC:5956 IMPAD1 gene IMPAD1 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia with joint dislocations, GPAPP type-MIM#614078 34989141 False 3 100;0;0 0.225 True ENSG00000104331 ENSG00000104331 HGNC:26019 INPPL1 gene INPPL1 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000165458 ENSG00000165458 HGNC:6080 KIAA0586 gene KIAA0586 Expert Review Amber;Expert Review Green;Literature;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Other;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23 MIM#616490;Short-rib thoracic dysplasia 14 with polydactyly MIM#616546 26096313;26166481 False 3 33;67;0 0.225 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479;?Orofaciodigital syndrome XV - MIM#617127;Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479 PMID: 29138412 False 3 100;0;0 0.225 True ENSG00000198920 ENSG00000198920 HGNC:29110 KIF5B gene KIF5B Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Skeletal dysplasia, MONDO:0018230;KIF5B-related;Kyphomelic dysplasia 35342932 False 3 100;0;0 0.225 True ENSG00000170759 ENSG00000170759 HGNC:6324 KIF7 gene KIF7 Expert Review Amber;Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 0;100;0 0.225 False ENSG00000166813 ENSG00000166813 HGNC:30497 LBR gene LBR Expert list;Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000143815 ENSG00000143815 HGNC:6518 LFNG gene LFNG Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive, MIM#609813 9690472;16385447;30531807;9690473 False 3 100;0;0 0.225 True ENSG00000106003 ENSG00000106003 HGNC:6560 LIFR gene LIFR Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000113594 ENSG00000113594 HGNC:6597 LONP1 gene LONP1 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal CODAS syndrome - MIM#600373 PMID: 25574826 False 3 100;0;0 0.225 True ENSG00000196365 ENSG00000196365 HGNC:9479 LRP5 gene LRP5 Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000162337 ENSG00000162337 HGNC:6697 LTBP3 gene LTBP3 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Geleophysic dysplasia 3 - MIM#617809" PMID: 27068007 False 3 100;0;0 0.225 True ENSG00000168056 ENSG00000168056 HGNC:6716 MATN3 gene MATN3 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728 31724101;32025536;11968079;14729835 False 3 100;0;0 0.225 True ENSG00000132031 ENSG00000132031 HGNC:6909 MBTPS1 gene MBTPS1 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392 32857899;32420688;30046013 False 3 100;0;0 0.225 True ENSG00000140943 ENSG00000140943 HGNC:15456 MEOX1 gene MEOX1 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Klippel-Feil syndrome 2, OMIM:214300;Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958 24073994;23290072 False 3 100;0;0 0.225 True ENSG00000005102 ENSG00000005102 HGNC:7013 MESD gene MESD Expert Review Green;Other Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Osteogenesis imperfecta, type XX, MIM# 618644" 31564437 False 3 100;0;0 0.225 True ENSG00000117899 ENSG00000117899 HGNC:13520 MESP2 gene MESP2 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 2, autosomal recessive (MIM#608681) 18485326 False 3 100;0;0 0.225 True ENSG00000188095 ENSG00000188095 HGNC:29659 MMP9 gene MMP9 Expert list;Expert Review Green;Literature;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Metaphyseal anadysplasia 2 - MIM# 613073 19615667;28342220;34407464 False 3 100;0;0 0.225 True ENSG00000100985 ENSG00000100985 HGNC:7176 MNX1 gene MNX1 Expert Review;Expert Review Green Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Currarino syndrome, MIM# 176450 32571425;33836786;11528505 False 3 100;0;0 0.225 True ENSG00000130675 ENSG00000130675 HGNC:4979 NANS gene NANS Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Camera-Genevieve type-MIM#610442;NANS-CDG 34163424 False 3 100;0;0 0.225 True ENSG00000095380 ENSG00000095380 HGNC:19237 NBAS gene NBAS Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly - MIM#614800 33042920 False 3 100;0;0 0.225 True ENSG00000151779 ENSG00000151779 HGNC:15625 NEK1 gene NEK1 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000137601 ENSG00000137601 HGNC:7744 NKX3-2 gene NKX3-2 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330) 20004766;29704686 False 3 100;0;0 0.225 True ENSG00000109705 ENSG00000109705 HGNC:951 NSDHL gene NSDHL Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 67;33;0 0.225 False ENSG00000147383 ENSG00000147383 HGNC:13398 OFD1 gene OFD1 Expert Review Amber;Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 0;100;0 0.225 False ENSG00000046651 ENSG00000046651 HGNC:2567 P3H1 gene P3H1 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000117385 ENSG00000117385 HGNC:19316 PAM16 gene PAM16 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320 24786642 False 3 100;0;0 0.225 True ENSG00000217930 ENSG00000217930 HGNC:29679 PCNT gene PCNT Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II - MIM#210720 34978779 False 3 100;0;0 0.225 True ENSG00000160299 ENSG00000160299 HGNC:16068 PEX7 gene PEX7 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000112357 ENSG00000112357 HGNC:8860 PLOD2 gene PLOD2 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000152952 ENSG00000152952 HGNC:9082 PLS3 gene PLS3 Expert list;Expert Review Green;Literature;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 0;100;0 0.225 False ENSG00000102024 ENSG00000102024 HGNC:9091 POC1A gene POC1A Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813 31630891;31630891;30569574 False 3 100;0;0 0.225 True ENSG00000164087 ENSG00000164087 HGNC:24488 POP1 gene POP1 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 2, OMIM:617396;Anauxetic dysplasia 2, MONDO:0054561 21455487;27380734;28067412 False 3 100;0;0 0.225 True ENSG00000104356 ENSG00000104356 HGNC:30129 PPIB gene PPIB Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000166794 ENSG00000166794 HGNC:9255 PTH1R gene PTH1R Expert list;Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000160801 ENSG00000160801 HGNC:9608 RAB34 gene RAB34 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome 20, MIM#620718 PMID: 37619988;PMID: 37384395 False 3 100;0;0 0.225 True ENSG00000109113 ENSG00000109113 HGNC:16519 RMRP gene RMRP Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNU4ATAC gene RNU4ATAC Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000264229 ENSG00000264229 HGNC:34016 ROR2 gene ROR2 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive - MIM#268310 20301418;31617258;24932600 False 3 100;0;0 0.225 True ENSG00000169071 ENSG00000169071 HGNC:10257 SBDS gene SBDS Expert Review Green;Genetic Health Queensland;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000126524 ENSG00000126524 HGNC:19440 SERPINH1 gene SERPINH1 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 50;0;50 0.225 False ENSG00000149257 ENSG00000149257 HGNC:1546 SHOX gene SHOX Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leri-Weill dyschondrosteosis, MIM# 127300;Langer mesomelic dysplasia, MIM#249700 29330548 False 3 100;0;0 0.225 True ENSG00000185960 ENSG00000185960 HGNC:10853 SLC10A7 gene SLC10A7 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis - MIM#618363 30082715 False 3 100;0;0 0.225 True ENSG00000120519 ENSG00000120519 HGNC:23088 SLC26A2 gene SLC26A2 Expert list;Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 33;67;0 0.225 False ENSG00000155850 ENSG00000155850 HGNC:10994 SLC29A3 gene SLC29A3 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome - MIM#602782 16155931 False 3 100;0;0 0.225 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC35D1 gene SLC35D1 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000116704 ENSG00000116704 HGNC:20800 SMAD4 gene SMAD4 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myhre syndrome - OMIM#139210;MONDO:0007688 28406602 False 3 100;0;0 0.225 True ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCAL1 gene SMARCAL1 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia (MIM#242900) 15523612;20301550;20301550;17089404;20036229 False 3 100;0;0 0.225 True ENSG00000138375 ENSG00000138375 HGNC:11102 SOX9 gene SOX9 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000125398 ENSG00000125398 HGNC:11204 TAB2 gene TAB2 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like;Congenital heart defects, nonsyndromic, 2 (MIM#614980) 34456334;36000780 False 3 100;0;0 0.225 True ENSG00000055208 ENSG00000055208 HGNC:17075 TBX15 gene TBX15 Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Cousin syndrome - MIM#260660 19068278;24039145 False 3 100;0;0 0.225 True ENSG00000092607 ENSG00000092607 HGNC:11594 TBX6 gene TBX6 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 5, 122600 8954725;20503311;23335591;25564734;31015262;30307510;31015262 False 3 100;0;0 0.225 True ENSG00000149922 ENSG00000149922 HGNC:11605 TCTEX1D2 gene TCTEX1D2 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000213123 ENSG00000213123 HGNC:28482 TCTN3 gene TCTN3 Expert list;Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 50;50;0 0.225 False ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM38B gene TMEM38B Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000095209 ENSG00000095209 HGNC:25535 TNFRSF11A gene TNFRSF11A Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 7 - MIM# 612301 18606301;32048120 False 3 100;0;0 0.225 True ENSG00000141655 ENSG00000141655 HGNC:11908 TRIP11 gene TRIP11 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Achondrogenesis, type IA, MIM# 200600 20089971 False 3 50;50;0 0.225 True ENSG00000100815 ENSG00000100815 HGNC:12305 TRPV4 gene TRPV4 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000111199 ENSG00000111199 HGNC:18083 TRPV6 gene TRPV6 Expert Review Green;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000165125 ENSG00000165125 HGNC:14006 TTC21B gene TTC21B Expert list;Expert Review Green;Genomics England PanelApp;KidGen_CilioNephronop v38.1.0;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 67;0;33 0.225 False ENSG00000123607 ENSG00000123607 HGNC:25660 WDR19 gene WDR19 Expert list;Expert Review Amber;Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 0;50;50 0.225 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 50;0;50 0.225 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 100;0;0 0.225 False ENSG00000126870 ENSG00000126870 HGNC:21862 WNT1 gene WNT1 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders Unknown False 3 50;50;0 0.225 False ENSG00000125084 ENSG00000125084 HGNC:12774 WNT5A gene WNT5A Expert list;Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1;OMIM# 180700 17256787 False 3 100;0;0 0.225 True ENSG00000114251 ENSG00000114251 HGNC:12784 XYLT1 gene XYLT1 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, MIM# 615777;Baratela-Scott syndrome 35081921;30554721;24581741;23982343 False 3 100;0;0 0.225 True ENSG00000103489 ENSG00000103489 HGNC:15516 ZMPSTE24 gene ZMPSTE24 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612;MONDO:0012074;Restrictive dermopathy, lethal, MIM# 275210;MONDO:0010143 11923874;22718200;29794150;29208544;12913070;27410998;27409638;15937076;16671095;22718200;29794150;24169522 False 3 100;0;0 0.225 True ENSG00000084073 ENSG00000084073 HGNC:12877 ZSWIM6 gene ZSWIM6 Expert Review Green;Literature Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acromelic frontonasal dysostosis - MIM#603671 PMID: 33776626 False 3 100;0;0 0.225 True ENSG00000130449 ENSG00000130449 HGNC:29316 CTGF gene CTGF Expert Review Amber;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Kyphomelic dysplasia MONDO:0008881 39506047 False 2 0;100;0 0.225 True ENSG00000118523 ENSG00000118523 HGNC:2500 DHCR24 gene DHCR24 Expert list;Expert Review Amber;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Desmosterolosis - MIM#602398 PMID: 21671375 False 2 50;50;0 0.225 True ENSG00000116133 ENSG00000116133 HGNC:2859 DNMT3A gene DNMT3A Expert Review Amber;Literature Skeletal Dysplasia_Fetal Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heyn-Sproul-Jackson syndrome, MIM# 618724 30478443 False 2 0;100;0 0.225 True ENSG00000119772 ENSG00000119772 HGNC:2978 GNPNAT1 gene GNPNAT1 Expert Review Amber;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic dysplasia, Ain-Naz type, MIM#619598 36097642;35427807;32591345 False 2 0;100;0 0.225 True ENSG00000100522 ENSG00000100522 HGNC:19980 HYLS1 gene HYLS1 Expert list;Expert Review Amber;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome (MIM#236680) 15843405;18648327;19400947;19656802;32509774;26830932;34212369 False 2 0;100;0 0.225 True ENSG00000198331 ENSG00000198331 HGNC:26558 IFT81 gene IFT81 Expert Review Amber;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895 27666822;30080953 False 2 0;50;50 0.225 True ENSG00000122970 ENSG00000122970 HGNC:14313 NPR2 gene NPR2 Expert list;Expert Review Amber;Literature Skeletal Dysplasia_Fetal Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Acromesomelic dysplasia 1, Maroteaux type - MIM#602875 31555216;16384845;15146390;22870295;24057292;24259409;16384845;24471569 False 2 50;50;0 0.225 True ENSG00000159899 ENSG00000159899 HGNC:7944