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 list;Expert Review Green Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Jeune asphyxiating thoracic dystrophy (JATD);Jeune Syndrome;Spondylometaphyseal dysplasia, axial, 602271;Retinal dystrophy with macular staphyloma, 617547 26974433;27548899;23105016;26167768 False 3 100;0;0 6.12 False ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal short-rib polydactyly syndromes (SRPS;MIM208500);MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD;?Orofaciodigital syndrome XIV, 615948;Orofaciodigital syndromes (OFDS, MIM 311200) 24997988;26044959;27094867 False 3 0;50;50 6.12 False ENSG00000168014 ENSG00000168014 HGNC:24564 CEP120 gene CEP120 Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 13 with or without polydactyly;Jeune syndrome;Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel;Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 29847808 False 3 100;0;0 6.12 False ENSG00000168944 ENSG00000168944 HGNC:26690 CSPP1 gene CSPP1 Expert list;Expert Review Green;NHS GMS Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, OMIM:615636;Joubert syndrome with Jeune asphyxiating thoracic dystrophy, MONDO:0018342 24360808;24360803 False 3 100;0;0 6.12 False ENSG00000104218 ENSG00000104218 HGNC:26193 DHCR7 gene DHCR7 Expert Review Green;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 9634533 False 3 100;0;0 6.12 False ENSG00000172893 ENSG00000172893 HGNC:2860 DYNC2H1 gene DYNC2H1 Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 False 3 0;0;0 6.12 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;Other Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib throacic dysplasia 15 with polydactyly, 617088 26077881 False 3 100;0;0 6.12 False ENSG00000138036 ENSG00000138036 HGNC:24595 EVC gene EVC Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500 False 3 0;0;0 6.12 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500;Weyers acrofacial dysostosis, OMIM:193530 38531627;23220543;19810119;16404586 False 3 100;0;0 6.12 False ENSG00000173040 ENSG00000173040 HGNC:19747 FAM149B1 gene FAM149B1 Expert Review Green;Literature;NHS GMS Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 36, OMIM:618763 30905400;34828254 False 3 50;50;0 6.12 False ENSG00000138286 ENSG00000138286 HGNC:29162 GLI3 gene GLI3 Expert list;Expert Review Green;UKGTN Skeletal ciliopathies Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 False 3 0;0;0 6.12 False ENSG00000106571 ENSG00000106571 HGNC:4319 ICK gene ICK Expert Review Green;Literature Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 19185282;27069622;27466187 False 3 0;0;0 6.12 False ENSG00000112144 ENSG00000112144 HGNC:21219 IFT122 gene IFT122 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia;Cranioectodermal dysplasia 1, 218330 19000668;24027799;23826986;26792575;24689072;20493458 False 3 0;0;0 6.12 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Saldino-Mainzer syndrome;Jeune syndrome;Short-rib thoracic dysplasia 9 with or without polydactyly, 266920;Mainzer-Saldino Syndrome;Short-rib thoracic dysplasia 9 with or without polydactyly 22503633 False 3 100;0;0 6.12 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 71, 616394;Short-rib thoracic dysplasia 10 with or without polydactyly;Saldino-Mainzer syndrome;Jeune syndrome;Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 24140113 False 3 100;0;0 6.12 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT43 gene IFT43 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 3, 614099;Sensenbrenner syndrome;Short-rib thoracic dysplasia 18 with polydactyly, 617866 29896747;28400947;26892345;24027799;21378380;22791528 False 3 67;0;33 6.12 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Green;Other Skeletal ciliopathies Musculoskeletal 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;30242358 False 3 50;0;50 6.12 False ENSG00000101052 ENSG00000101052 HGNC:15901 IFT80 gene IFT80 Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 2 with or without polydactyly;Jeune syndrome;Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 False 3 0;0;0 6.12 False ENSG00000068885 ENSG00000068885 HGNC:29262 IFT81 gene IFT81 Expert list;Expert Review Green Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 27666822;26275418;30080953 False 3 100;0;0 6.12 False ENSG00000122970 ENSG00000122970 HGNC:14313 INTU gene INTU Expert Review Green;Literature;NHS GMS Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925;?Orofaciodigital syndrome XVII, OMIM:617926 20067783;27158779;29451301 False 3 100;0;0 6.12 False ENSG00000164066 ENSG00000164066 HGNC:29239 IQCE gene IQCE Expert Review Green;Literature Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A7 OMIM:617642;polydactyly, postaxial, type a7 MONDO:0060550 28488682;31549751 False 3 100;0;0 6.12 False ENSG00000106012 ENSG00000106012 HGNC:29171 KIAA0586 gene KIAA0586 Expert list;Expert Review Green;NHS GMS Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546;short-rib thoracic dysplasia 14 with polydactyly, MONDO:0014688 26166481;32080096;36538006 False 3 67;33;0 6.12 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert Review Green;Literature Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XV 617127;Joubert syndrome;Short-rib skeletal dysplasia 29138412;28220259;26643951 False 3 50;0;50 6.12 False ENSG00000198920 ENSG00000198920 HGNC:29110 LBR gene LBR Expert list;Expert Review Green;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Skeletal Ciliopathies;Greenberg skeletal dysplasia, 215140 21327084;12618959;29068549 False 3 100;0;0 6.12 False ENSG00000143815 ENSG00000143815 HGNC:6518 NEK1 gene NEK1 Emory Genetics Laboratory;Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly;Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 False 3 0;0;0 6.12 False ENSG00000137601 ENSG00000137601 HGNC:7744 PIK3C2A gene PIK3C2A Expert Review Green;Literature Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Oculoskeletodental syndrome 618440 31034465 False 3 0;0;0 6.12 False ENSG00000011405 ENSG00000011405 HGNC:8971 PRKACA gene PRKACA Expert Review Green;Literature;NHS GMS Skeletal ciliopathies Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardioacrofacial dysplasia 1, OMIM:619142 33058759;31130284 False 3 100;0;0 6.12 False ENSG00000072062 ENSG00000072062 HGNC:9380 PRKACB gene PRKACB Expert Review Green;Literature;NHS GMS Skeletal ciliopathies Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardioacrofacial dysplasia 2, OMIM:619143 33058759 False 3 50;50;0 6.12 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142875 ENSG00000142875 HGNC:9381 SBDS gene SBDS Expert list;Expert Review Green;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Skeletal Ciliopathies 22554078 False 3 0;0;0 6.12 False ENSG00000126524 ENSG00000126524 HGNC:19440 TCTEX1D2 gene TCTEX1D2 Expert list;Expert Review Green Skeletal ciliopathies Musculoskeletal 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 28475963;25830415;26044572 False 3 100;0;0 6.12 False ENSG00000213123 ENSG00000213123 HGNC:28482 TTC21B gene TTC21B Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Other;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, 613820;Short-rib thoracic dysplasia 4 with or without polydactyly;Jeune syndrome;Short-rib thoracic dysplasia 4 with or without polydactyly, 613819;Nephronophthisis 21258341;27515926 (functional study in C. elegans);21068128;24876116 (Focal segmental glomerulosclerosis) False 3 100;0;0 6.12 False ENSG00000123607 ENSG00000123607 HGNC:25660 WDR19 gene WDR19 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13, 614377;?Short-rib thoracic dysplasia 5 with or without polydactyly;Senior-Loken syndrome 8, 616307;Cranioectodermal dysplasia;?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376;Jeune syndrome;Senior-Loken syndrome;?Cranioectodermal dysplasia 4, 614378;Nephronophthisis False 3 0;0;0 6.12 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly;Jeune syndrome;Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 24183449 False 3 100;0;0 6.12 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2, 613610;Cranioectodermal dysplasia;Short-rib thoracic dysplasia 7 with or without polydactyly;Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 False 3 0;0;0 6.12 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, 615503;Short-rib thoracic dysplasia 8 with or without polydactyly;Jeune syndrome;SHORT-RIB POLYDACTYLY 25492405;23910462;29271569;26874042 False 3 50;0;50 6.12 False ENSG00000126870 ENSG00000126870 HGNC:21862 ZSWIM6 gene ZSWIM6 Expert Review Green;Literature Skeletal ciliopathies Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acromelic frontonasal dysostosis 603671 25105228 False 3 100;0;0 6.12 False Other - please provide details in the comments ENSG00000130449 ENSG00000130449 HGNC:29316 GRK2 gene GRK2 Expert Review Amber;Literature Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Jeune syndrome, MONDO:0018770 33200460 False 2 0;100;0 6.12 False ENSG00000173020 ENSG00000173020 HGNC:289 PDIA6 gene PDIA6 Expert Review Amber;Literature Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes 33495992 False 2 0;100;0 6.12 False ENSG00000143870 ENSG00000143870 HGNC:30168 RSG1 gene RSG1 Expert Review Amber;Literature Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308;polydactyly, MONDO:0021003 29038301;40593758 False 2 100;0;0 6.12 False ENSG00000132881 ENSG00000132881 HGNC:28127 SCNM1 gene SCNM1 Expert Review Amber;Literature Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIX, OMIM:620107;orofaciodigital syndrome 19, MONDO:0859310 36084634;41291844 False 2 100;0;0 6.12 False ENSG00000163156 ENSG00000163156 HGNC:23136 SUFU gene SUFU Expert list;Expert Review Amber Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 32, OMIM:617757 28965847 False 2 33;67;0 6.12 False ENSG00000107882 ENSG00000107882 HGNC:16466 B9D1 gene B9D1 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance);24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1) False 1 0;0;100 6.12 False ENSG00000108641 ENSG00000108641 HGNC:24123 PMM2 gene PMM2 Expert Review Red;Literature;NHS GMS Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 1 33;0;67 6.12 False ENSG00000140650 ENSG00000140650 HGNC:9115 RABL2A gene RABL2A Literature Skeletal ciliopathies Musculoskeletal Unknown polydactyly;growth retardation 33075816 False 1 0;0;100 6.12 False ENSG00000144134 ENSG00000144134 HGNC:9799 TAPT1 gene TAPT1 Expert list;Expert Review Red Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 26365339 False 1 0;0;100 6.12 False ENSG00000169762 ENSG00000169762 HGNC:26887 TBC1D32 gene TBC1D32 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Skeletal ciliopathies Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IX, OMIM:258865;orofaciodigital syndrome IX, MONDO:0009795;Alsahan-Harris syndrome, OMIM:621307;Alsahan-Harris syndrome, MONDO:0979871 32573025;31130284;32060556;24285566;35875813 False 1 0;0;0 6.12 False ENSG00000146350 ENSG00000146350 HGNC:21485