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 C21orf2 gene C21orf2 Expert Review;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Jeune/Axial Spondylomethaphyseal dysplasia;Axial Spondylometaphyseal Dysplasia 602271 26974433 False 3 100;0;0 1.24 False ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert Review;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal OROFACIODIGITAL SYNDROME XIV;OFD14, #615948 False 3 100;0;0 1.24 False ENSG00000168014 ENSG00000168014 HGNC:24564 CEP120 gene CEP120 Expert Review;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Short-rib thoracic dysplasia 13 with or without polydactyly 616300;ORPHA:474 Jeune syndrome;ORPHA:475 Joubert syndrome;ORPHA:220493 Joubert syndrome with ocular defect" 25361962;27208211 False 3 100;0;0 1.24 False ENSG00000168944 ENSG00000168944 HGNC:26690 CSPP1 gene CSPP1 Expert Review;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 21 615636;ORPHA:475 Joubert syndrome;ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy;ORPHA:564 Meckel syndrome" False 3 100;0;0 1.24 False ENSG00000104218 ENSG00000104218 HGNC:26193 DYNC2H1 gene DYNC2H1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 False 3 100;0;0 1.24 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY;SRTD15 #617088 False 3 100;0;0 1.24 False ENSG00000138036 ENSG00000138036 HGNC:24595 EVC gene EVC Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld Syndrome;Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530 False 3 100;0;0 1.24 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome False 3 100;0;0 1.24 False ENSG00000173040 ENSG00000173040 HGNC:19747 HYLS1 gene HYLS1 Emory Genetics Laboratory;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal HYDROLETHALUS SYNDROME 1;HLS1, # 236680 False 3 100;0;0 1.24 False ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 27466187;27069622;19185282 False 3 100;0;0 1.24 False ENSG00000112144 ENSG00000112144 HGNC:21219 IFT122 gene IFT122 Expert Review;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal CED 20493458 False 3 100;0;0 1.24 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mainzer-Saldino Syndrome;Short-rib thoracic dysplasia 9 with of without polydactyly, 266920 22503633 False 3 100;0;0 1.24 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;Radboud University Medical Center, Nijmegen Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 False 3 100;0;0 1.24 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT43 gene IFT43 Emory Genetics Laboratory;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Cranioectodermal dysplasia 3 614099" 21378380;22791528;26892345;24027799 False 3 100;0;0 1.24 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102;Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 27466190;26880018 False 3 67;33;0 1.24 False ENSG00000101052 ENSG00000101052 HGNC:15901 IFT80 gene IFT80 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 17468754;19648123;19610081 False 3 100;0;0 1.24 False ENSG00000068885 ENSG00000068885 HGNC:29262 IFT81 gene IFT81 Expert Review;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-Rib Polydactyly Syndrome 26275418;28460050;27666822 False 3 100;0;0 1.24 False ENSG00000122970 ENSG00000122970 HGNC:14313 KIAA0586 gene KIAA0586 Expert Review;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, SRTD14 #616546 False 3 100;0;0 1.24 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIF7 gene KIF7 Emory Genetics Laboratory;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal ACROCALLOSAL SYNDROME, ACLS / JOUBERT SYNDROME 12 #200990 21552264 False 3 100;0;0 1.24 False ENSG00000166813 ENSG00000166813 HGNC:30497 NEK1 gene NEK1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short rib-polydactyly syndrome, type IIA, 263520;Short Rib Polydactyly Syndrome False 3 100;0;0 1.24 False ENSG00000137601 ENSG00000137601 HGNC:7744 OFD1 gene OFD1 Emory Genetics Laboratory;Expert Review Green Thoracic dystrophies Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) OROFACIODIGITAL SYNDROME I, OFD1 #311200 False 3 100;0;0 1.24 False ENSG00000046651 ENSG00000046651 HGNC:2567 TCTEX1D2 gene TCTEX1D2 Expert Review Green;Other Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405;Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565;Jeune asphyxiating thoracic dystrophy;JATD 26044572 False 3 100;0;0 1.24 False ENSG00000213123 ENSG00000213123 HGNC:28482 TRPV6 gene TRPV6 Expert Review Green;Literature Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hyperparathyroidism, transient neonatal, 618188 29861107 False 3 100;0;0 1.24 True ENSG00000165125 ENSG00000165125 HGNC:14006 TTC21B gene TTC21B Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Asphyxiating Thoracic Dystrophy;Nephronophthisis 12, 613820 False 3 50;50;0 1.24 False ENSG00000123607 ENSG00000123607 HGNC:25660 WDR19 gene WDR19 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy 5, 614376 False 3 50;50;0 1.24 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert Review Green;Radboud University Medical Center, Nijmegen Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, 615633;Jeune Asphyxiating Thoracic Dystrophy 24183451 False 3 100;0;0 1.24 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2, 613610Short rib-polydactyly syndrome, type V, 614091 False 3 50;50;0 1.24 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;Radboud University Medical Center, Nijmegen Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, 615503;Jeune Asphyxiating Thoracic Dystrophy False 3 67;33;0 1.24 False ENSG00000126870 ENSG00000126870 HGNC:21862 DDX59 gene DDX59 Expert Review;Expert Review Amber Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Orofaciodigital syndrome V 174300;ORPHA:2919 Orofaciodigital syndrome type 5" 23972372 False 2 67;33;0 1.24 False ENSG00000118197 ENSG00000118197 HGNC:25360 INTU gene INTU Expert Review;Expert Review Amber Thoracic dystrophies Skeletal dysplasias Skeletal disorders SRPS 28289185;25774014;20067783 False 2 100;0;0 1.24 False ENSG00000164066 ENSG00000164066 HGNC:29239 TMEM107 gene TMEM107 Expert Review;Expert Review Amber Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Meckel-Gruber syndrome;Orofaciodigital syndrome 26595381;26518474;26123494;28289185;24901346 False 2 0;0;100 1.24 False ENSG00000179029 ENSG00000179029 HGNC:28128 ACVR2B gene ACVR2B Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders Ciliopathies False 1 0;0;100 1.24 False ENSG00000114739 ENSG00000114739 HGNC:174 ADGRV1 gene ADGRV1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000164199 ENSG00000164199 HGNC:17416 AHI1 gene AHI1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIPL1 gene AIPL1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000129221 ENSG00000129221 HGNC:359 ARL13B gene ARL13B Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000113966 ENSG00000113966 HGNC:13210 ATXN10 gene ATXN10 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders Other Spinocerebellar ataxia 10, OMIM:603516 False 1 0;0;100 1.24 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000130638 ENSG00000130638 HGNC:10549 B9D1 gene B9D1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 False 1 0;0;100 1.24 False ENSG00000108641 ENSG00000108641 HGNC:24123 B9D2 gene B9D2 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 False 1 0;0;100 1.24 False ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000122507 ENSG00000122507 HGNC:30000 C2orf71 gene C2orf71 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000179270 ENSG00000179270 HGNC:34383 C5orf42 gene C5orf42 Emory Genetics Laboratory;Expert Review Red Thoracic dystrophies Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal OROFACIODIGITAL SYNDROME VI;OFD6 False 1 33;0;67 1.24 False ENSG00000197603 ENSG00000197603 HGNC:25801 CC2D2A gene CC2D2A Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC28B gene CCDC28B Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC39 gene CCDC39 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000141519 ENSG00000141519 HGNC:26090 CDH23 gene CDH23 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000107736 ENSG00000107736 HGNC:13733 CEP164 gene CEP164 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000106477 ENSG00000106477 HGNC:12370 CFTR gene CFTR Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000001626 ENSG00000001626 HGNC:1884 CLRN1 gene CLRN1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000163646 ENSG00000163646 HGNC:12605 CRB1 gene CRB1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRELD1 gene CRELD1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000163703 ENSG00000163703 HGNC:14630 CRX gene CRX Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000105392 ENSG00000105392 HGNC:2383 DNAAF1 gene DNAAF1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAH11 gene DNAH11 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAL1 gene DNAL1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000119661 ENSG00000119661 HGNC:23247 FOXH1 gene FOXH1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000160973 ENSG00000160973 HGNC:3814 GDF1 gene GDF1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000130283 ENSG00000130283 HGNC:4214 GLIS2 gene GLIS2 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000126603 ENSG00000126603 HGNC:29450 GUCY2D gene GUCY2D Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000132518 ENSG00000132518 HGNC:4689 IMPDH1 gene IMPDH1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000106348 ENSG00000106348 HGNC:6052 INVS gene INVS Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000173226 ENSG00000173226 HGNC:28949 KCNJ13 gene KCNJ13 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000115474 ENSG00000115474 HGNC:6259 LCA5 gene LCA5 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000135338 ENSG00000135338 HGNC:31923 LEFTY2 gene LEFTY2 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000143768 ENSG00000143768 HGNC:3122 LRAT gene LRAT Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000121207 ENSG00000121207 HGNC:6685 MKKS gene MKKS Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000011143 ENSG00000011143 HGNC:7121 MYO7A gene MYO7A Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000137474 ENSG00000137474 HGNC:7606 NEK8 gene NEK8 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000160602 ENSG00000160602 HGNC:13387 NKX2-5 gene NKX2-5 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000183072 ENSG00000183072 HGNC:2488 NME8 gene NME8 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000086288 ENSG00000086288 HGNC:16473 NODAL gene NODAL Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000156574 ENSG00000156574 HGNC:7865 NPHP1 gene NPHP1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000131697 ENSG00000131697 HGNC:19104 PCDH15 gene PCDH15 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000150275 ENSG00000150275 HGNC:14674 PKD2 gene PKD2 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000170927 ENSG00000170927 HGNC:9016 RD3 gene RD3 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000139988 ENSG00000139988 HGNC:19977 RPE65 gene RPE65 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000092200 ENSG00000092200 HGNC:13436 RPGRIP1L gene RPGRIP1L Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000103494 ENSG00000103494 HGNC:29168 RSPH4A gene RSPH4A Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000172426 ENSG00000172426 HGNC:21057 SCLT1 gene SCLT1 Expert Review;Expert Review Red Thoracic dystrophies Skeletal dysplasias Skeletal disorders Orofaciodigital syndrome 24285566 False 1 0;0;100 1.24 False ENSG00000151466 ENSG00000151466 HGNC:26406 SCNN1A gene SCNN1A Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000166828 ENSG00000166828 HGNC:10602 SDCCAG8 gene SDCCAG8 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000054282 ENSG00000054282 HGNC:10671 SPATA7 gene SPATA7 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000042317 ENSG00000042317 HGNC:20423 TBC1D32 gene TBC1D32 Expert Review Thoracic dystrophies Skeletal dysplasias Skeletal disorders Orofaciodigital syndrome IX, OMIM:258865;orofaciodigital syndrome IX, MONDO:0009795 24285566 False 1 0;0;100 1.24 False ENSG00000146350 ENSG00000146350 HGNC:21485 TCTN1 gene TCTN1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000168778 ENSG00000168778 HGNC:25774 TMEM138 gene TMEM138 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000164953 ENSG00000164953 HGNC:28396 TOPORS gene TOPORS Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000197579 ENSG00000197579 HGNC:21653 TRIM32 gene TRIM32 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000119401 ENSG00000119401 HGNC:16380 TSC1 gene TSC1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000103197 ENSG00000103197 HGNC:12363 TTC8 gene TTC8 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000165533 ENSG00000165533 HGNC:20087 TULP1 gene TULP1 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000112041 ENSG00000112041 HGNC:12423 UMOD gene UMOD Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000169344 ENSG00000169344 HGNC:12559 USH1C gene USH1C Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000042781 ENSG00000042781 HGNC:12601 VHL gene VHL Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000134086 ENSG00000134086 HGNC:12687 WDPCP gene WDPCP Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000143951 ENSG00000143951 HGNC:28027 WHRN gene WHRN Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000095397 ENSG00000095397 HGNC:16361 XPNPEP3 gene XPNPEP3 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000196236 ENSG00000196236 HGNC:28052 ZIC3 gene ZIC3 Emory Genetics Laboratory;Expert Review Red Thoracic dystrophies Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS;VACTERLX False 1 33;0;67 1.24 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZNF423 gene ZNF423 Emory Genetics Laboratory Thoracic dystrophies Skeletal dysplasias Skeletal disorders False 1 0;0;100 1.24 False ENSG00000102935 ENSG00000102935 HGNC:16762 ATXN10_ATTCT str ATXN10 Expert Review Red;NHS GMS;Expert list Thoracic dystrophies Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516 12164725 False 1 50;0;50 1.24 False ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800