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 Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, axial, MIM# 602271 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 26974433;27548899;28422394 False 3 100;0;0 1.15 True ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV, MIM# 615948;MONDO:0014413 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 24997988;26477546;27094867;30097616;33875766 False 3 100;0;0 1.15 True ENSG00000168014 ENSG00000168014 HGNC:24564 CEP120 gene CEP120 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 25361962;27208211 False 3 100;0;0 1.15 True ENSG00000168944 ENSG00000168944 HGNC:26690 CSPP1 gene CSPP1 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, MIM# 615636;MONDO:0014288 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 24360808 False 3 100;0;0 1.15 True ENSG00000104218 ENSG00000104218 HGNC:26193 DHCR7 gene DHCR7 Expert list;Expert Review Green Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Smith-Lemli-Opitz syndrome, MIM# 270400" Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 False 3 100;0;0 1.15 True ENSG00000172893 ENSG00000172893 HGNC:2860 DYNC2H1 gene DYNC2H1 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091;MONDO:0013127 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 19442771;19361615;22499340;23456818;27925158 False 3 100;0;0 1.15 True ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088) Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 33030252 False 3 100;0;0 1.15 True ENSG00000138036 ENSG00000138036 HGNC:24595 EVC gene EVC Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM# 225500 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 23220543 False 3 50;50;0 1.15 True ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome (MIM#225500) Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 23220543 False 3 50;50;0 1.15 True ENSG00000173040 ENSG00000173040 HGNC:19747 FUZ gene FUZ Expert Review Green;Literature Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy_MONDO_0005308, FUZ-related;skeletal ciliopathy Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 PMID: 38702430, 29068549, 34719684 False 3 100;0;0 1.15 True ENSG00000010361 ENSG00000010361 HGNC:26219 GLI3 gene GLI3 Expert list;Expert Review Green Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Greig cephalopolysyndactyly syndrome, MIM# 175700;Polydactyly" Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 False 3 100;0;0 1.15 True ENSG00000106571 ENSG00000106571 HGNC:4319 ICK gene ICK Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia (MIM#612651) Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 19185282;27069622;27466187;24797473;24853502 False 3 100;0;0 1.15 True ENSG00000112144 ENSG00000112144 HGNC:21219 IFT122 gene IFT122 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1, MIM# 218330;MONDO:0021093;Beemer-Langer syndrome Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 29037998;20493458;23826986;26792575;29220510;28370949;27681595;27681595 False 3 100;0;0 1.15 True ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920;MONDO:0009964 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 22503633;23418020;28288023;28724397 False 3 100;0;0 1.15 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 24140113 False 3 100;0;0 1.15 True ENSG00000138002 ENSG00000138002 HGNC:30391 IFT43 gene IFT43 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866;Cranioectodermal dysplasia 3, MIM# 614099 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 28400947;21378380;29896747 False 3 100;0;0 1.15 True ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 26880018;27466190;30242358;31042281 False 3 100;0;0 1.15 True ENSG00000101052 ENSG00000101052 HGNC:15901 IFT74 gene IFT74 Expert Review Green;Literature Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Jeune syndrome (MONDO:0018770), IFT74-related Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 PMID: 37315079 False 3 100;0;0 1.15 True ENSG00000096872 ENSG00000096872 HGNC:21424 IFT80 gene IFT80 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263;MONDO:0012644 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 17468754;19648123;30767363 False 3 100;0;0 1.15 True ENSG00000068885 ENSG00000068885 HGNC:29262 IFT81 gene IFT81 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 27666822;30080953;28460050;26275418 False 3 0;100;0 1.15 True ENSG00000122970 ENSG00000122970 HGNC:14313 KIAA0753 gene KIAA0753 Expert list;Expert Review Green Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 29138412;31816441;33875766;34016807 False 3 100;0;0 1.15 True ENSG00000198920 ENSG00000198920 HGNC:29110 LBR gene LBR Expert list;Expert Review Green Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Greenberg skeletal dysplasia, MIM#215140 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 29068549 False 3 100;0;0 1.15 True ENSG00000143815 ENSG00000143815 HGNC:6518 NEK1 gene NEK1 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 21211617;22499340;25492405;28123176 False 3 100;0;0 1.15 True ENSG00000137601 ENSG00000137601 HGNC:7744 PIK3C2A gene PIK3C2A Expert list;Expert Review Green Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Oculoskeletodental syndrome, MIM# 618440 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 31034465 False 3 100;0;0 1.15 True ENSG00000011405 ENSG00000011405 HGNC:8971 RAB34 gene RAB34 Expert Review Green;Literature Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome 20, MIM#620718 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 PMID: 37619988;PMID: 37384395 False 3 100;0;0 1.15 True ENSG00000109113 ENSG00000109113 HGNC:16519 TCTEX1D2 gene TCTEX1D2 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 26044572;25830415 False 3 100;0;0 1.15 True ENSG00000213123 ENSG00000213123 HGNC:28482 TTC21B gene TTC21B Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 4 with or without polydactyly (MIM#613819) Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 29068549;25492405;21258341 False 3 100;0;0 1.15 True ENSG00000123607 ENSG00000123607 HGNC:25660 WDR34 gene WDR34 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 24183449;24183451;30649997;29241935;28379358 False 3 100;0;0 1.15 True ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091;MONDO:0013569 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 21473986 False 3 100;0;0 1.15 True ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503;Retinitis pigmentosa Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 23910462;29271569;26874042 False 3 100;0;0 1.15 True ENSG00000126870 ENSG00000126870 HGNC:21862 GRK2 gene GRK2 Expert Review Amber;Literature Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 33200460 False 2 0;100;0 1.15 True ENSG00000173020 ENSG00000173020 HGNC:289 HYLS1 gene HYLS1 Expert Review Amber;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome, MIM# 236680 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 False 2 0;100;0 1.15 True ENSG00000198331 ENSG00000198331 HGNC:26558 KIAA0586 gene KIAA0586 Expert Review Amber;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 26166481 False 2 0;100;0 1.15 True ENSG00000100578 ENSG00000100578 HGNC:19960 KIF7 gene KIF7 Expert Review Amber;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Acrocallosal syndrome, MIM# 200990;Joubert syndrome 12, MIM# 200990 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 False 2 0;100;0 1.15 True ENSG00000166813 ENSG00000166813 HGNC:30497 OFD1 gene OFD1 Expert Review Amber;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders Other Orofaciodigital syndrome I, MIM# 311200 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 False 2 0;100;0 1.15 True ENSG00000046651 ENSG00000046651 HGNC:2567 PDIA6 gene PDIA6 Expert Review Amber;Literature Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 PMID: 33495992 False 2 0;50;50 1.15 True ENSG00000143870 ENSG00000143870 HGNC:30168 WDR19 gene WDR19 Expert Review Amber;Victorian Clinical Genetics Services Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376 Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591 22019273 False 2 0;100;0 1.15 True ENSG00000157796 ENSG00000157796 HGNC:18340