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 AGR2 gene AGR2 Expert Review Green;Literature;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis-like syndrome;chronic diarrhoea 34952832 False 3 100;0;0 4.55 False ENSG00000106541 ENSG00000106541 HGNC:328 ARMC4 gene ARMC4 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, 615451 False 3 100;0;0 4.55 False ENSG00000169126 ENSG00000169126 HGNC:25583 C11orf70 gene C11orf70 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 38, OMIM:618063 29727692 False 3 100;0;0 4.55 False ENSG00000137691 ENSG00000137691 HGNC:28188 C21orf59 gene C21orf59 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 26, 615500 False 3 100;0;0 4.55 False ENSG00000159079 ENSG00000159079 HGNC:1301 CCDC103 gene CCDC103 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17, 614679;Primary Ciliary Dyskinesia False 3 100;0;0 4.55 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20, 615067 False 3 100;0;0 4.55 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC151 gene CCDC151 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 30, 616037 False 3 100;0;0 4.55 False ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC39 gene CCDC39 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, 613807;Primary Ciliary Dyskinesia;Bronchiectasis False 3 100;0;0 4.55 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 15, 613808;Primary Ciliary Dyskinesia;Bronchiectasis False 3 75;0;25 4.55 False ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC65 gene CCDC65 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 27, 615504 23991085;24094744 False 3 100;0;0 4.55 False ENSG00000139537 ENSG00000139537 HGNC:29937 CCNO gene CCNO Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 29 False 3 100;0;0 4.55 False ENSG00000152669 ENSG00000152669 HGNC:18576 CEP164 gene CEP164 Expert Review Green;Literature;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 15, OMIM:614845;Bronchiectasis, HP:0002110 22863007;34556108;36273371 False 3 100;0;0 4.55 False ENSG00000110274 ENSG00000110274 HGNC:29182 CFAP221 gene CFAP221 Expert Review Green;Literature;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 55, OMIM:279000 31636325;38960684;39362668;40250778 False 3 50;25;25 4.55 False ENSG00000163075 ENSG00000163075 HGNC:33720 CFAP54 gene CFAP54 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 54, OMIM:621125 26224312;37725231;39362668 False 3 50;17;33 4.55 False ENSG00000188596 ENSG00000188596 HGNC:26456 CFAP74 gene CFAP74 Expert Review Green;Literature;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197;ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197 32555313;36047773;39362668 False 3 75;25;0 4.55 False ENSG00000142609 ENSG00000142609 HGNC:29368 CFTR gene CFTR Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Cystic Fibrosis;Ciliopathies;Congenital bilateral absence of vas deferens, 277180;Sweat chloride elevation without CF;{Hypertrypsinemia, neonatal};Cystic fibrosis, 219700;{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400;Bronchiectasis;{Pancreatitis, idiopathic}, 167800 False 3 50;0;50 4.55 False ENSG00000001626 ENSG00000001626 HGNC:1884 DNAAF1 gene DNAAF1 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13, 613193;Primary Ciliary Dyskinesia;Bronchiectasis False 3 75;0;25 4.55 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Bronchiectasis;Ciliary dyskinesia, primary, 10, 612518 False 3 75;0;25 4.55 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Ciliary dyskinesia, primary, 2, 606763 False 3 100;0;0 4.55 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 25, 615482{Dyslexia, susceptibility to, 1}, 127700 False 3 100;0;0 4.55 False ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 18, 614874 False 3 100;0;0 4.55 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH11 gene DNAH11 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884;Primary Ciliary Dyskinesia;Bronchiectasis False 3 80;0;20 4.55 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia;Bronchiectasis;Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 False 3 80;0;20 4.55 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAH9 gene DNAH9 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 40, OMIM:618300;ciliary dyskinesia, primary, 40, MONDO:0032664 30471717 False 3 100;0;0 4.55 False ENSG00000007174 ENSG00000007174 HGNC:2953 DNAI1 gene DNAI1 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400;Primary Ciliary Dyskinesia;Bronchiectasis False 3 80;20;0 4.55 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444;Primary Ciliary Dyskinesia;Bronchiectasis False 3 100;0;0 4.55 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAJB13 gene DNAJB13 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 34, OMIM:617091, MONDO:0014909 27486783;35166991;40637281 False 3 67;33;0 4.55 False ENSG00000187726 ENSG00000187726 HGNC:30718 DNAL1 gene DNAL1 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 16, 614017;Primary Ciliary Dyskinesia;Bronchiectasis False 3 100;0;0 4.55 False ENSG00000119661 ENSG00000119661 HGNC:23247 DRC1 gene DRC1 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 21, 615294 False 3 100;0;0 4.55 False ENSG00000157856 ENSG00000157856 HGNC:24245 EFCAB1 gene EFCAB1 Expert Review Green;Literature;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 53, OMIM:620642 36727596 False 3 100;0;0 4.55 False ENSG00000034239 ENSG00000034239 HGNC:25678 FOXJ1 gene FOXJ1 Expert Review Green;Literature;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ciliary dyskinesia, primary, 43, OMIM:618699, MONDO:0032874 31630787;37469238;37813609 False 3 75;25;0 4.55 False Other ENSG00000129654 ENSG00000129654 HGNC:3816 GAS2L2 gene GAS2L2 Expert Review;Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal ?Ciliary dyskinesia, primary, 41, OMIM:618449 30665704;36104176 False 3 67;33;0 4.55 False ENSG00000132139 ENSG00000270765 HGNC:24846 GAS8 gene GAS8 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 4.55 False ENSG00000141013 ENSG00000141013 HGNC:4166 HYDIN gene HYDIN Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 5, OMIM:608647 23022101 False 3 100;0;0 4.55 False ENSG00000157423 ENSG00000157423 HGNC:19368 LRRC56 gene LRRC56 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 39, OMIM:618254;Ciliary dyskinesia, primary, 39, MONDO:0032637 30388400 False 3 50;0;50 4.55 False ENSG00000161328 ENSG00000161328 HGNC:25430 LRRC6 gene LRRC6 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19, 614935;Primary Ciliary Dyskinesia False 3 100;0;0 4.55 False ENSG00000129295 ENSG00000129295 HGNC:16725 MCIDAS gene MCIDAS Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 42, OMIM:618695,MONDO:0032872 False 3 100;0;0 4.55 False ENSG00000234602 ENSG00000234602 HGNC:40050 NEK10 gene NEK10 Expert list;Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 44, OMIM:618781;ciliary dyskinesia, primary, 44, MONDO:0032914 31959991;32414360;35728977 False 3 100;0;0 4.55 False ENSG00000163491 ENSG00000163491 HGNC:18592 NFKB1 gene NFKB1 Expert Review;Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 12, 616576;Recurrent sinopulmonary infections 26279205 False 3 100;0;0 4.55 False ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB2 gene NFKB2 Expert Review;Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 10, 615577;Bronchiectasis 26279205 False 3 100;0;0 4.55 False ENSG00000077150 ENSG00000077150 HGNC:7795 NME5 gene NME5 Expert Review Green;Literature;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 48, without situs inversus, OMIM:620032 31479451;32185794;37957793 False 3 33;67;0 4.55 False ENSG00000112981 ENSG00000112981 HGNC:7853 OFD1 gene OFD1 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliopathies;Primary ciliary dyskinesia;Simpson-Golabi-Behmel syndrome, type 2, OMIM:300209, MONDO:0010265 31366608;32276433;31373179;16783569;22548404 False 3 33;17;50 4.55 False ENSG00000046651 ENSG00000046651 HGNC:2567 PIH1D3 gene PIH1D3 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory 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 False 3 100;0;0 4.55 False ENSG00000080572 ENSG00000080572 HGNC:28570 PIK3CD gene PIK3CD Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 14A, autosomal dominant, OMIM:615513;Bronchiectasis 29556229 False 3 67;33;0 4.55 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3R1 gene PIK3R1 Expert Review;Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Immunodeficiency 36, 616005;Bronchiectasis 29556229 False 3 100;0;0 4.55 False ENSG00000145675 ENSG00000145675 HGNC:8979 RAG1 gene RAG1 Expert Review;Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency (CID);Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A);early onset and progressive lung disease 24996264;29477728;25516070 False 3 100;0;0 4.55 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Expert Review;Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency (CID);Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A);early onset and progressive lung disease 24996264;29477728 False 3 100;0;0 4.55 False ENSG00000175097 ENSG00000175097 HGNC:9832 RPGR gene RPGR Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliopathies;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, OMIM:300455;primary ciliary dyskinesia-retinitis pigmentosa syndrome, MONDO:0010330 10094550;12920075;16055928;22888088;14627685 False 3 67;17;17 4.55 False ENSG00000156313 ENSG00000156313 HGNC:10295 RSPH1 gene RSPH1 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 24, 615481 False 3 100;0;0 4.55 False ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH3 gene RSPH3 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 32, 616481 False 3 100;0;0 4.55 False ENSG00000130363 ENSG00000130363 HGNC:21054 RSPH4A gene RSPH4A Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal sinusitis;chronic wet cough;nasal symptoms;rhinorrhea;recurrent respiratory infections;Primary Ciliary Dyskinesia;rhinitis;Reduced exercise tolerance;otitis media;nasal blockage;Bronchiectasis;short stature;deafness;glue ear;low weight;hearing problems;Ciliary dyskinesia, primary, 11, 612649 False 3 100;0;0 4.55 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 12, 612650;Primary Ciliary Dyskinesia;Bronchiectasis False 3 100;0;0 4.55 False ENSG00000172426 ENSG00000172426 HGNC:21057 SCNN1A gene SCNN1A Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ciliopathies;Bronchiectasis;Pseudohypoaldosteronism, type I, 264350;Bronchiectasis with or without elevated sweat chloride 2, 613021 False 3 50;0;50 4.55 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ciliopathies;Non-Classic Cystic Fibrosis-Like Syndrome;Pseudohypoaldosteronism, type I, 264350;Liddle syndrome, 177200;Bronchiectasis with or without elevated sweat chloride 1, 211400;Bronchiectasis False 3 67;0;33 4.55 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Liddle syndrome, 177200;Ciliopathies;Bronchiectasis;Bronchiectasis with or without elevated sweat chloride 3, 613071;Pseudohypoaldosteronism, type I, 264350 False 3 67;0;33 4.55 False ENSG00000166828 ENSG00000166828 HGNC:10602 SPAG1 gene SPAG1 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 28, 615505 False 3 100;0;0 4.55 False ENSG00000104450 ENSG00000104450 HGNC:11212 SPEF2 gene SPEF2 Expert list;Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 43, OMIM:618751, MONDO:0032898;Primary ciliary dyskinesia-like phenotype 31151990;31278745;31048344;31942643 False 3 67;33;0 4.55 False ENSG00000152582 ENSG00000152582 HGNC:26293 TP73 gene TP73 Expert Review Green;Literature;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466 34077761 False 3 100;0;0 4.55 False ENSG00000078900 ENSG00000078900 HGNC:12003 TTC12 gene TTC12 Expert list;Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 45, OMIM:618801;MONDO:0032924 31978331;36273201;37325566;38992144 False 3 100;0;0 4.55 False ENSG00000149292 ENSG00000149292 HGNC:23700 TTC25 gene TTC25 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 35, OMIM:617092 27486780;31765523;33715250;33746037;34215651 False 3 100;0;0 4.55 False ENSG00000204815 ENSG00000204815 HGNC:25280 TUBB4B gene TUBB4B Expert Review Green;Literature;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted primary ciliary dyskinesia, MONDO:0016575 38662826;39115449 False 3 100;0;0 4.55 False ENSG00000188229 ENSG00000188229 HGNC:20771 ZMYND10 gene ZMYND10 Expert Review Green;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 22, 615444 False 3 100;0;0 4.55 False ENSG00000004838 ENSG00000004838 HGNC:19412 STK36 gene STK36 Expert Review Amber;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal 28543983 False 2 0;67;33 4.55 False ENSG00000163482 ENSG00000163482 HGNC:17209 WFDC2 gene WFDC2 Expert Review Amber;Literature Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Bronchiectasis and nasal polyposis, OMIM:620984 38626355;40401042 False 2 100;0;0 4.55 False ENSG00000101443 ENSG00000101443 HGNC:15939 AGPAT2 gene AGPAT2 Expert Review Red;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome False 1 0;0;100 4.55 False ENSG00000169692 ENSG00000169692 HGNC:325 AK7 gene AK7 ClinGen Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal ?Spermatogenic failure 27, OMIM:617965;primary ciliary dyskinesia, MONDO:0016575 False 1 0;0;100 4.55 False ENSG00000140057 ENSG00000140057 HGNC:20091 AKNA gene AKNA Expert Review Red;Literature Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 32367404;21606955 False 1 0;0;100 4.55 False ENSG00000106948 ENSG00000106948 HGNC:24108 BRWD1 gene BRWD1 Expert Review Red;Literature Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia, asthenoteratozoospermia 33389130 False 1 33;0;67 4.55 False ENSG00000185658 ENSG00000185658 HGNC:12760 CENPF gene CENPF Expert Review Red;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 31, 616369 False 1 0;0;100 4.55 False ENSG00000117724 ENSG00000117724 HGNC:1857 CFAP43 gene CFAP43 ClinGen Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 19, OMIM:617592;primary ciliary dyskinesia, MONDO:0016575 False 1 0;0;100 4.55 False ENSG00000197748 ENSG00000197748 HGNC:26684 CFAP46 gene CFAP46 Expert Review Red;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia, MONDO:0016575 22573824;23715323;29843777;39362668 False 1 0;40;60 4.55 False ENSG00000171811 ENSG00000171811 HGNC:25247 CFAP57 gene CFAP57 Expert Review Red;Other Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 32764743 False 1 0;0;100 4.55 False ENSG00000243710 ENSG00000243710 HGNC:26485 DAW1 gene DAW1 Expert Review Red;Literature;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 52, OMIM:620570 36074124;28991257 False 1 33;0;67 4.55 False ENSG00000123977 ENSG00000123977 HGNC:26383 DNAH1 gene DNAH1 Expert Review Red;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 37, OMIM:617577;ciliary dyskinesia, primary, 37, MONDO:0033204 25927852;31765523;34210339 False 1 0;25;75 4.55 False ENSG00000114841 ENSG00000114841 HGNC:2940 DNAH10 gene DNAH10 ClinGen Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 56, OMIM:619515;primary ciliary dyskinesia, MONDO:0016575 False 1 0;0;100 4.55 False ENSG00000197653 ENSG00000197653 HGNC:2941 DNAH14 gene DNAH14 ClinGen Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia, MONDO:0016575 False 1 0;0;100 4.55 False ENSG00000185842 ENSG00000185842 HGNC:2945 DNAH6 gene DNAH6 Expert Review Red;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia, MONDO:0016575 False 1 0;50;50 4.55 False ENSG00000115423 ENSG00000115423 HGNC:2951 DNAH7 gene DNAH7 ClinGen Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 50, OMIM:620356;ciliary dyskinesia, primary, 50, MONDO:0957252 False 1 0;0;100 4.55 False ENSG00000118997 ENSG00000118997 HGNC:18661 DNAH8 gene DNAH8 Expert Review Red;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 46, OMIM:619095;primary ciliary dyskinesia, MONDO:0016575 False 1 0;25;75 4.55 False ENSG00000124721 ENSG00000124721 HGNC:2952 GOLGA3 gene GOLGA3 Expert Review Red;Literature Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia 23495255;32367404 False 1 0;0;100 4.55 False ENSG00000090615 ENSG00000090615 HGNC:4426 IFT140 gene IFT140 Literature Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly OMIM:266920 34556108 False 1 0;0;100 4.55 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT74 gene IFT74 ClinGen Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia, MONDO:0016575 False 1 0;0;100 4.55 False ENSG00000096872 ENSG00000096872 HGNC:21424 ITCH gene ITCH Expert Review Red;Literature Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, with facial dysmorphism OMIM:613385;syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245;primary ciliary dyskinesia 20170897;32367404 False 1 0;0;100 4.55 False ENSG00000078747 ENSG00000078747 HGNC:13890 MNS1 gene MNS1 ClinGen Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948 False 1 0;0;100 4.55 False ENSG00000138587 ENSG00000138587 HGNC:29636 NME8 gene NME8 Expert Review Red;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 6, 610852;Bronchiectasis False 1 50;17;33 4.55 False ENSG00000086288 ENSG00000086288 HGNC:16473 ORMDL3 gene ORMDL3 Expert Review Red;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory False 1 0;0;100 4.55 False ENSG00000172057 ENSG00000172057 HGNC:16038 PLK4 gene PLK4 Literature Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive 2 OMIM:616171;microcephaly and chorioretinopathy 2 MONDO:0014516 25344692;34556108 False 1 0;0;100 4.55 False ENSG00000142731 ENSG00000142731 HGNC:11397 SPAG17 gene SPAG17 Expert Review Red;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory False 1 0;0;100 4.55 False ENSG00000155761 ENSG00000155761 HGNC:26620 TAPT1 gene TAPT1 Expert Review Red;NHS GMS Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal False 1 0;50;50 4.55 False ENSG00000169762 ENSG00000169762 HGNC:26887 TEKT1 gene TEKT1 ClinGen Respiratory ciliopathies including non-CF bronchiectasis Respiratory BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia, MONDO:0016575 False 1 0;0;100 4.55 False ENSG00000167858 ENSG00000167858 HGNC:15534