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