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 ACVR2B gene ACVR2B Emory Genetics Laboratory;Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ciliopathies False 1 0;0;0 1.180 False ENSG00000114739 ENSG00000114739 HGNC:174 ADGRV1 gene ADGRV1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000164199 ENSG00000164199 HGNC:17416 AIPL1 gene AIPL1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000129221 ENSG00000129221 HGNC:359 ARMC4 gene ARMC4 Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, 615451 False 1 0;0;0 1.180 False ENSG00000169126 ENSG00000169126 HGNC:25583 ATXN10 gene ATXN10 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Other Spinocerebellar ataxia 10, OMIM:603516;Ciliopathies False 1 0;0;100 1.180 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;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1);21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance) False 1 0;0;100 1.180 False ENSG00000108641 ENSG00000108641 HGNC:24123 BBIP1 gene BBIP1 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 18, 615995 24026985 False 1 0;0;0 1.180 False ENSG00000214413 ENSG00000214413 HGNC:28093 C21orf59 gene C21orf59 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 26, 615500 False 1 0;0;0 1.180 False ENSG00000159079 ENSG00000159079 HGNC:1301 C2orf71 gene C2orf71 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000179270 ENSG00000179270 HGNC:34383 C8orf37 gene C8orf37 Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, 617406 27008867; 26854863 False 1 0;0;0 1.180 False ENSG00000156172 ENSG00000156172 HGNC:27232 CCDC103 gene CCDC103 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17, 614679 False 1 0;0;0 1.180 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20, 615067 False 1 0;0;0 1.180 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC151 gene CCDC151 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 30, 616037 False 1 0;0;0 1.180 False ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC28B gene CCDC28B Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal {Bardet-Biedl syndrome 1, modifier of}, 209900;ciliopathies 23015189 False 1 0;100;0 1.180 False ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC39 gene CCDC39 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, 613807;ciliopathies False 1 0;0;0 1.180 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, 613807;ciliopathies False 1 0;0;0 1.180 False ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC65 gene CCDC65 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 27, 615504 False 1 0;0;0 1.180 False ENSG00000139537 ENSG00000139537 HGNC:29937 CCNO gene CCNO Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 29, 615872 False 1 0;0;0 1.180 False ENSG00000152669 ENSG00000152669 HGNC:18576 CDH23 gene CDH23 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000107736 ENSG00000107736 HGNC:13733 CFAP43 gene CFAP43 Expert Review Red;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 19, 617592 28552195 False 1 100;0;0 1.180 False ENSG00000197748 ENSG00000197748 HGNC:26684 CFAP44 gene CFAP44 Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal "?Spermatogenic failure 20 617593" 28552195 False 1 0;0;100 1.180 False ENSG00000206530 ENSG00000206530 HGNC:25631 CFAP53 gene CFAP53 Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 1.180 False ENSG00000172361 ENSG00000172361 HGNC:26530 CFC1 gene CFC1 Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 1.180 False ENSG00000136698 ENSG00000136698 HGNC:18292 CFTR gene CFTR Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000001626 ENSG00000001626 HGNC:1884 CLRN1 gene CLRN1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000163646 ENSG00000163646 HGNC:12605 CRB1 gene CRB1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRELD1 gene CRELD1 Emory Genetics Laboratory;Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ciliopathies False 1 0;0;0 1.180 False ENSG00000163703 ENSG00000163703 HGNC:14630 CRX gene CRX Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000105392 ENSG00000105392 HGNC:2383 DCDC2 gene DCDC2 Expert list;Expert Review Red;Orphanet;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 19, 616217;Neonatal sclerosing cholangitis 27319779 - biallelic missense variants reported in four affected children with Neonatal sclerosing cholangitis;27469900 - 7 out of 24 patients with 7 with biallelic protein-truncating variants in DCDC2 (6 of 19 families);25557784 - in vitro/in vivo evidence;22558177 - expression data for the transcriptome of ciliated cells False 1 25;25;50 1.180 False ENSG00000146038 ENSG00000146038 HGNC:18141 DNAAF1 gene DNAAF1 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13, 613193;ciliopathies False 1 0;0;0 1.180 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 10, 612518;ciliopathies False 1 0;0;0 1.180 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 2, 606763;ciliopathies False 1 0;0;0 1.180 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 25, 615482 {Dyslexia, susceptibility to, 1}, 127700 False 1 0;0;0 1.180 False ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 1.180 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH1 gene DNAH1 Expert Review Red;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 18, 617576;?Ciliary dyskinesia, primary, 37, 617577 27798045; 24360805; 28552195 False 1 100;0;0 1.180 False ENSG00000114841 ENSG00000114841 HGNC:2940 DNAH11 gene DNAH11 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884;ciliopathies False 1 0;0;0 1.180 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644;ciliopathies False 1 0;0;0 1.180 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 False 1 0;0;0 1.180 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 False 1 0;0;0 1.180 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAJB13 gene DNAJB13 Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies No OMIM phenotype False 1 0;0;0 1.180 False ENSG00000187726 ENSG00000187726 HGNC:30718 DNAL1 gene DNAL1 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 16, 614017 False 1 0;0;0 1.180 False ENSG00000119661 ENSG00000119661 HGNC:23247 DNHD1 gene DNHD1 Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies No OMIM phenotype False 1 0;0;0 1.180 False ENSG00000179532 ENSG00000179532 HGNC:26532 DRC1 gene DRC1 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 21, 615294 False 1 0;0;0 1.180 False ENSG00000157856 ENSG00000157856 HGNC:24245 EXOC8 gene EXOC8 Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 1.180 False ENSG00000116903 ENSG00000116903 HGNC:24659 FOXH1 gene FOXH1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000160973 ENSG00000160973 HGNC:3814 GAS8 gene GAS8 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 33, 616726 False 1 0;0;0 1.180 False ENSG00000141013 ENSG00000141013 HGNC:4166 GDF1 gene GDF1 Emory Genetics Laboratory;Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 1.180 False ENSG00000130283 ENSG00000130283 HGNC:4214 GUCY2D gene GUCY2D Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000132518 ENSG00000132518 HGNC:4689 HYDIN gene HYDIN Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 1.180 False ENSG00000157423 ENSG00000157423 HGNC:19368 IMPDH1 gene IMPDH1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000106348 ENSG00000106348 HGNC:6052 KCNJ13 gene KCNJ13 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000115474 ENSG00000115474 HGNC:6259 KIAA0556 gene KIAA0556 Expert Review Red;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771 False 1 0;0;0 1.180 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIF14 gene KIF14 Expert list;Expert Review Red;Orphanet;Other;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 24128419 False 1 0;100;0 1.180 False ENSG00000118193 ENSG00000118193 HGNC:19181 LBR gene LBR Expert list;Expert Review Red;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Skeletal Ciliopathies False 1 100;0;0 1.180 False ENSG00000143815 ENSG00000143815 HGNC:6518 LCA5 gene LCA5 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Leber congenital amaurosis 5, 604537;Ciliopathies False 1 0;0;0 1.180 False ENSG00000135338 ENSG00000135338 HGNC:31923 LEFTY2 gene LEFTY2 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000143768 ENSG00000143768 HGNC:3122 LRAT gene LRAT Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000121207 ENSG00000121207 HGNC:6685 LRRC6 gene LRRC6 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19, 614935 False 1 0;0;0 1.180 False ENSG00000129295 ENSG00000129295 HGNC:16725 MCIDAS gene MCIDAS Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 1.180 False ENSG00000234602 ENSG00000234602 HGNC:40050 MUC1 gene MUC1 Expert list;Expert Review Red;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 1.180 False ENSG00000185499 ENSG00000185499 HGNC:7508 MYO7A gene MYO7A Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000137474 ENSG00000137474 HGNC:7606 NKX2-5 gene NKX2-5 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000183072 ENSG00000183072 HGNC:2488 NME8 gene NME8 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 6, 610852 False 1 0;0;0 1.180 False ENSG00000086288 ENSG00000086288 HGNC:16473 NODAL gene NODAL Emory Genetics Laboratory;Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 1.180 False ENSG00000156574 ENSG00000156574 HGNC:7865 OCRL gene OCRL Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Dent disease 2, 300555;Lowe syndrome, 309000 False 1 0;0;0 1.180 False ENSG00000122126 ENSG00000122126 HGNC:8108 PCDH15 gene PCDH15 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000150275 ENSG00000150275 HGNC:14674 PDE6D gene PDE6D Expert list;Expert Review Red;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22, 615665;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22 24166846 False 1 0;67;33 1.180 False ENSG00000156973 ENSG00000156973 HGNC:8788 POC1A gene POC1A Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 False 1 0;0;0 1.180 False ENSG00000164087 ENSG00000164087 HGNC:24488 PRKCSH gene PRKCSH Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 1.180 False ENSG00000130175 ENSG00000130175 HGNC:9411 RD3 gene RD3 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000139988 ENSG00000139988 HGNC:19977 RPE65 gene RPE65 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Emory Genetics Laboratory;Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;0 1.180 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Emory Genetics Laboratory;Expert Review Red;Orphanet Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies;Meckel syndrome False 1 0;0;0 1.180 False ENSG00000092200 ENSG00000092200 HGNC:13436 RSPH1 gene RSPH1 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 24, 615481 False 1 0;0;0 1.180 False ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH4A gene RSPH4A Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 11, 612649 False 1 0;0;0 1.180 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 12, 612650 False 1 0;0;0 1.180 False ENSG00000172426 ENSG00000172426 HGNC:21057 SCNN1A gene SCNN1A Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000166828 ENSG00000166828 HGNC:10602 SEC63 gene SEC63 Expert list;Expert Review Red;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 1.180 False ENSG00000025796 ENSG00000025796 HGNC:21082 SPAG1 gene SPAG1 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 28, 615505 False 1 0;0;0 1.180 False ENSG00000104450 ENSG00000104450 HGNC:11212 SPATA7 gene SPATA7 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Leber congenital amaurosis 3, 604232;Retinitis pigmentosa, juvenile, autosomal recessive, 604232;Ciliopathies False 1 0;0;0 1.180 False ENSG00000042317 ENSG00000042317 HGNC:20423 TAPT1 gene TAPT1 Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 26365339 False 1 0;0;100 1.180 False ENSG00000169762 ENSG00000169762 HGNC:26887 TOPORS gene TOPORS Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;100;0 1.180 False ENSG00000197579 ENSG00000197579 HGNC:21653 TRIM32 gene TRIM32 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2H, 254110;?Bardet-Biedl syndrome 11, 615988 16606853;11822024 False 1 0;0;100 1.180 False ENSG00000119401 ENSG00000119401 HGNC:16380 TSC1 gene TSC1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000103197 ENSG00000103197 HGNC:12363 TTBK2 gene TTBK2 Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Spinocerebellar ataxia 11, 604432 False 1 0;0;0 1.180 False ENSG00000128881 ENSG00000128881 HGNC:19141 TULP1 gene TULP1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Leber congenital amaurosis 15, 613843;Retinitis pigmentosa 14, 600132;Ciliopathies False 1 0;0;0 1.180 False ENSG00000112041 ENSG00000112041 HGNC:12423 UMOD gene UMOD Emory Genetics Laboratory;Expert list;Expert Review Red;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 1.180 False ENSG00000169344 ENSG00000169344 HGNC:12559 USH1C gene USH1C Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000042781 ENSG00000042781 HGNC:12601 VHL gene VHL Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Erythrocytosis, familial, 2, 263400;Hemangioblastoma, cerebellar, somatic;Pheochromocytoma, 171300;Renal cell carcinoma, somatic, 144700;von Hippel-Lindau syndrome, 193300;Ciliopathies False 1 0;0;0 1.180 False ENSG00000134086 ENSG00000134086 HGNC:12687 WDR63 gene WDR63 Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown occipital encephalocele and inconsistent brain lobulation; ciliopathy-like disorder False 1 0;0;0 1.180 False ENSG00000162643 ENSG00000162643 HGNC:30711 WHRN gene WHRN Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000095397 ENSG00000095397 HGNC:16361 ZIC3 gene ZIC3 Emory Genetics Laboratory;Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;0 1.180 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMYND10 gene ZMYND10 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 22, 615444 False 1 0;0;0 1.180 False ENSG00000004838 ENSG00000004838 HGNC:19412