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 ARMC4 gene ARMC4 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, 615451 False 3 100;0;0 1.56 True ENSG00000169126 ENSG00000169126 HGNC:25583 C21orf59 gene C21orf59 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 26, 615500 False 3 100;0;0 1.56 True ENSG00000159079 ENSG00000159079 HGNC:1301 CCDC103 gene CCDC103 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 17, 614679 False 3 100;0;0 1.56 True ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20, 615067 False 3 100;0;0 1.56 True ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC151 gene CCDC151 Expert Review;Expert Review Green Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 30, 616037 25192045 False 3 100;0;0 1.56 True ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC39 gene CCDC39 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 14, 613807 False 3 100;0;0 1.56 True ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 15, 613808 False 3 100;0;0 1.56 True ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC65 gene CCDC65 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 27, 615504 False 3 100;0;0 1.56 True ENSG00000139537 ENSG00000139537 HGNC:29937 CCNO gene CCNO Expert Review;Expert Review Green Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 29; PMID:24747639 False 3 100;0;0 1.56 True ENSG00000152669 ENSG00000152669 HGNC:18576 DNAAF1 gene DNAAF1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 13, 613193 False 3 100;0;0 1.56 True ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 10, 612518 False 3 100;0;0 1.56 True ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 2, 606763 False 3 100;0;0 1.56 True ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 25, 615482{Dyslexia, susceptibility to, 1}, 127700 False 3 100;0;0 1.56 True ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 18, 614874 False 3 100;0;0 1.56 True ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH11 gene DNAH11 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 False 3 100;0;0 1.56 True ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 False 3 100;0;0 1.56 True ENSG00000039139 ENSG00000039139 HGNC:2950 DNAH9 gene DNAH9 Expert Review Green;Literature Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 40, OMIM:618300;ciliary dyskinesia, primary, 40, MONDO:0032664 30471717;30471718 False 3 100;0;0 1.56 False ENSG00000007174 ENSG00000007174 HGNC:2953 DNAI1 gene DNAI1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 False 3 67;33;0 1.56 True ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 False 3 100;0;0 1.56 True ENSG00000171595 ENSG00000171595 HGNC:18744 DNAL1 gene DNAL1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 16, 614017 False 3 100;0;0 1.56 True ENSG00000119661 ENSG00000119661 HGNC:23247 DRC1 gene DRC1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 21, 615294 False 3 100;0;0 1.56 True ENSG00000157856 ENSG00000157856 HGNC:24245 GAS2L2 gene GAS2L2 Expert Review;Expert Review Green Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia;?Ciliary dyskinesia, primary, 41 618449 30665704 False 3 50;50;0 1.56 False ENSG00000132139 ENSG00000270765 HGNC:24846 GAS8 gene GAS8 Expert Review;Expert Review Green Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Too new - not yet linked to the PCD mutations publication PMID:26387594 False 3 100;0;0 1.56 True ENSG00000141013 ENSG00000141013 HGNC:4166 HYDIN gene HYDIN Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 5, OMIM:608647 23022101 False 3 100;0;0 1.56 True ENSG00000157423 ENSG00000157423 HGNC:19368 LRRC6 gene LRRC6 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 19, 614935 False 3 100;0;0 1.56 True ENSG00000129295 ENSG00000129295 HGNC:16725 MCIDAS gene MCIDAS Expert Review;Expert Review Green Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 42, OMIM:618695,MONDO:0032872 PMID:25048963;24771309 False 3 100;0;0 1.56 True ENSG00000234602 ENSG00000234602 HGNC:40050 NEK10 gene NEK10 Expert Review Green;Other Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 44, OMIM:618781 31959991;32414360 False 3 100;0;0 1.56 False ENSG00000163491 ENSG00000163491 HGNC:18592 OFD1 gene OFD1 Emory Genetics Laboratory;Expert Review Green Primary ciliary disorders Respiratory ciliopathies Ciliopathies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Simpson-Golabi-Behmel syndrome, type 2, OMIM:300209;?Retinitis pigmentosa 23 , OMIM:300424;Joubert syndrome 10, OMIM:300804;Orofaciodigital syndrome I, OMIOM:311200 31366608;31373179 False 3 40;0;60 1.56 False ENSG00000046651 ENSG00000046651 HGNC:2567 PIH1D3 gene PIH1D3 Expert Review;Expert Review Green;Literature Primary ciliary disorders Respiratory ciliopathies Ciliopathies X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked primary ciliary dyskinesia;X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects DOI: 10.1038/ncomms14279; 28041644 False 3 0;0;0 1.56 False ENSG00000080572 ENSG00000080572 HGNC:28570 RPGR gene RPGR Emory Genetics Laboratory;Expert Review Green Primary ciliary disorders Respiratory ciliopathies Ciliopathies X-LINKED: hemizygous mutation in males, biallelic mutations in females ciliopathies False 3 50;0;50 1.56 True ENSG00000156313 ENSG00000156313 HGNC:10295 RSPH1 gene RSPH1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 24, 615481 False 3 100;0;0 1.56 True ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH3 gene RSPH3 Expert Review;Expert Review Green Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 32 PMID:26073779 False 3 100;0;0 1.56 True ENSG00000130363 ENSG00000130363 HGNC:21054 RSPH4A gene RSPH4A Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 11, 612649 False 3 100;0;0 1.56 True ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 12, 612650 False 3 100;0;0 1.56 True ENSG00000172426 ENSG00000172426 HGNC:21057 SPAG1 gene SPAG1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 28, 615505 False 3 100;0;0 1.56 True ENSG00000104450 ENSG00000104450 HGNC:11212 ZMYND10 gene ZMYND10 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 22, 615444 False 3 100;0;0 1.56 True ENSG00000004838 ENSG00000004838 HGNC:19412 LZTFL1 gene LZTFL1 Expert Review Amber;UKGTN Primary ciliary disorders Respiratory ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Visceral Heterotaxy;Bardet-Biedl Syndrome 17 22510444;23692385 False 2 0;100;0 1.56 True ENSG00000163818 ENSG00000163818 HGNC:6741