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 Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233 34952832 False 3 100;0;0 1.40 True ENSG00000106541 ENSG00000106541 HGNC:328 ARMC4 gene ARMC4 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, MIM# 615451 31765523 False 3 100;0;0 1.40 True ENSG00000169126 ENSG00000169126 HGNC:25583 C11orf70 gene C11orf70 Expert list;Expert Review Green Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Ciliary dyskinesia, primary, 38 618063" PMID: 29727693;29727692 False 3 100;0;0 1.40 True ENSG00000137691 ENSG00000137691 HGNC:28188 C21orf59 gene C21orf59 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 26, MIM# 615500 24094744;26904945 False 3 100;0;0 1.40 True ENSG00000159079 ENSG00000159079 HGNC:1301 CCDC103 gene CCDC103 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17, MIM# 614679 22581229;32447765;31858719;28790179 False 3 100;0;0 1.40 True ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20, MIM# 615067 23261303;23261302;32855706;23506398 False 3 100;0;0 1.40 True ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC151 gene CCDC151 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 30, MIM# 616037 25192045;25224326;32490514;32286033;30504913 False 3 100;0;0 1.40 True ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC39 gene CCDC39 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, MIM# 613807 21131972;23255504 False 3 100;0;0 1.40 True ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 15, MIM#613808 21131974;23255504;31879361;31765523;31650533 False 3 100;0;0 1.40 True ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC65 gene CCDC65 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 27, MIM# 615504 23991085;24094744 False 3 50;50;0 1.40 True ENSG00000139537 ENSG00000139537 HGNC:29937 CCNO gene CCNO Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 29, MIM# 615872 24747639;31765523;28801648 False 3 100;0;0 1.40 True ENSG00000152669 ENSG00000152669 HGNC:18576 CFAP43 gene CFAP43 Expert Review;Expert Review Green Ciliary Dyskinesia Respiratory disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Hydrocephalus, normal pressure, 1 236690;Spermatogenic failure 19 617592" PMID: 31884020;28552195;31004071;29449551 False 3 100;0;0 1.40 True ENSG00000197748 ENSG00000197748 HGNC:26684 CFAP53 gene CFAP53 Expert Review Green;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 6, autosomal recessive 614779 PMID:28621423;22577226;26531781 False 3 100;0;0 1.40 True ENSG00000172361 ENSG00000172361 HGNC:26530 CFTR gene CFTR Expert list;Expert Review Green Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis;bronchiectasis False 3 100;0;0 1.40 True ENSG00000001626 ENSG00000001626 HGNC:1884 DAW1 gene DAW1 Expert Review Green;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570 36074124 False 3 100;0;0 1.40 True ENSG00000123977 ENSG00000123977 HGNC:26383 DNAAF1 gene DNAAF1 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13, MIM# 613193 19944400;19944405;32502479;29228333;27261005 False 3 100;0;0 1.40 True ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 10, MIM# 612518 19052621;32638265;31107948 False 3 100;0;0 1.40 True ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 2, MIM# 606763 22387996;32622824;31186518 False 3 100;0;0 1.40 True ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 25, MIM# 615482 23872636 False 3 100;0;0 1.40 True ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 18, MIM# 614874 23040496;29363216;25232951 False 3 100;0;0 1.40 True ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH11 gene DNAH11 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 12142464;18022865;22102620;32633470;31879361;31765523;31040315 False 3 100;0;0 1.40 True ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH17 gene DNAH17 Expert Review Green;Other Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal spermatogenic failure 39 (MONDO:0032845) https://search.clinicalgenome.org/CCID:004669 False 3 100;0;0 1.40 True ENSG00000187775 ENSG00000187775 HGNC:2946 DNAH5 gene DNAH5 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644) 16627867 False 3 100;0;0 1.40 True ENSG00000039139 ENSG00000039139 HGNC:2950 DNAH7 gene DNAH7 Expert Review Green;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia, MONDO:0016575, DNAH7-related 34476482;35543642 False 3 100;0;0 1.40 True ENSG00000118997 ENSG00000118997 HGNC:18661 DNAH9 gene DNAH9 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 40, MIM# 618300 30471717;30471718 False 3 100;0;0 1.40 True ENSG00000007174 ENSG00000007174 HGNC:2953 DNAI1 gene DNAI1 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 10577904;11231901;32502479;31765523;30622330 False 3 100;0;0 1.40 True ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444 18950741;23261302 False 3 100;0;0 1.40 True ENSG00000171595 ENSG00000171595 HGNC:18744 DNAJB13 gene DNAJB13 Expert Review Green;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Ciliary dyskinesia, primary, 34 617091" PMID:27486783 False 3 50;50;0 1.40 True ENSG00000187726 ENSG00000187726 HGNC:30718 DRC1 gene DRC1 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 21, MIM# 615294 31960620 False 3 100;0;0 1.40 True ENSG00000157856 ENSG00000157856 HGNC:24245 EFCAB1 gene EFCAB1 Expert Review Green;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 53, MIM# 620642 PMID: 36727596 False 3 100;0;0 1.40 True ENSG00000034239 ENSG00000034239 HGNC:25678 FOXJ1 gene FOXJ1 Expert Review Green;Literature Ciliary Dyskinesia Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ciliary dyskinesia, primary, 43, MIM# 618699;hydrocephalus;chronic destructive airway disease;randomization of left/right body asymmetry" 31630787 False 3 100;0;0 1.40 True ENSG00000129654 ENSG00000129654 HGNC:3816 GAS8 gene GAS8 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 33, mIM# 616726 26387594;27120127 False 3 100;0;0 1.40 True ENSG00000141013 ENSG00000141013 HGNC:4166 HYDIN gene HYDIN Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 5 (MIM#608647) 23022101;23849777;28441829;31116566 False 3 100;0;0 1.40 True ENSG00000157423 ENSG00000157423 HGNC:19368 LRRC56 gene LRRC56 Expert list;Expert Review Green Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Ciliary dyskinesia, primary, 39 618254" PMID: 30388400 False 3 100;0;0 1.40 True ENSG00000161328 ENSG00000161328 HGNC:25430 LRRC6 gene LRRC6 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19, MIM# 614935 23122589;23891469;32622824;29511670 False 3 100;0;0 1.40 True ENSG00000129295 ENSG00000129295 HGNC:16725 MCIDAS gene MCIDAS Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 42 (MIM#618695) 25048963 False 3 100;0;0 1.40 True ENSG00000234602 ENSG00000234602 HGNC:40050 NEK10 gene NEK10 Expert Review Green;NHS GMS Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 44, MIM# 618781;Bronchiectasis 31959991 False 3 100;0;0 1.40 True ENSG00000163491 ENSG00000163491 HGNC:18592 OFD1 gene OFD1 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Joubert syndrome 10, MIM 300804;Orofaciodigital syndrome I, MIM 311200;Simpson-Golabi-Behmel syndrome, type 2, MIM 300209;Primary ciliary dyskinesia 32276433;31373179 False 3 100;0;0 1.40 True ENSG00000046651 ENSG00000046651 HGNC:2567 PIH1D3 gene PIH1D3 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliary dyskinesia, primary, 36, X-linked (MIM#300991) 28041644;24421334;28176794 False 3 100;0;0 1.40 True ENSG00000080572 ENSG00000080572 HGNC:28570 RPGR gene RPGR Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455 10094550;12920075;16055928 False 3 100;0;0 1.40 True ENSG00000156313 ENSG00000156313 HGNC:10295 RSPH1 gene RSPH1 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 24 (MIM#615481) 23993197 False 3 100;0;0 1.40 True ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH3 gene RSPH3 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 32 (MIM#616481) 26073779 False 3 100;0;0 1.40 True ENSG00000130363 ENSG00000130363 HGNC:21054 RSPH4A gene RSPH4A Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 11 (MIM#612649) 23798057;23798057;23798057;25789548;22448264 False 3 100;0;0 1.40 True ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 12 (MIM#612650) 25789548;31285900;22384920;23993197;19200523;27626380 False 3 100;0;0 1.40 True ENSG00000172426 ENSG00000172426 HGNC:21057 SCNN1G gene SCNN1G Expert list;Expert Review Green Ciliary Dyskinesia Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071" False 3 50;0;50 1.40 True ENSG00000166828 ENSG00000166828 HGNC:10602 SPAG1 gene SPAG1 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 28 (MIM#615505) 24055112;32622824;32502479 False 3 100;0;0 1.40 True ENSG00000104450 ENSG00000104450 HGNC:11212 TP73 gene TP73 Expert Review Green;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466 31130284;34077761 False 3 100;0;0 1.40 True ENSG00000078900 ENSG00000078900 HGNC:12003 TTC12 gene TTC12 Expert Review Green;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia 31978331 False 3 100;0;0 1.40 True ENSG00000149292 ENSG00000149292 HGNC:23700 TTC25 gene TTC25 Expert Review;Expert Review Green Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 35 (MIM#617092) 27486780;31765523;33715250;33746037;34215651 False 3 50;50;0 1.40 True ENSG00000204815 ENSG00000204815 HGNC:25280 TUBB4B gene TUBB4B Expert Review Green;Other Ciliary Dyskinesia Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related False 3 100;0;0 1.40 True ENSG00000188229 ENSG00000188229 HGNC:20771 ZMYND10 gene ZMYND10 Expert Review Green;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 22, MIM#615444 23891471;23891469 False 3 100;0;0 1.40 True ENSG00000004838 ENSG00000004838 HGNC:19412 CFAP57 gene CFAP57 Expert Review Amber;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Van der Woude Syndrome;Primary ciliary dyskinesia 21574244;32764743 False 2 0;100;0 1.40 True ENSG00000243710 ENSG00000243710 HGNC:26485 CFAP74 gene CFAP74 Expert Review Amber;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia;infertility 32555313 False 2 0;100;0 1.40 True ENSG00000142609 ENSG00000142609 HGNC:29368 DNAH1 gene DNAH1 Expert Review Amber;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal ?Ciliary dyskinesia, primary, 37 617577;Spermatogenic failure 18 617576 31507630;31765523;25927852;24360805 False 2 0;100;0 1.40 True ENSG00000114841 ENSG00000114841 HGNC:2940 DNAH6 gene DNAH6 Expert list;Expert Review Amber Ciliary Dyskinesia Respiratory disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Heterotaxy, Azoospermia PMID: 26918822;28206990;31676830;29356036 False 2 0;100;0 1.40 True ENSG00000115423 ENSG00000115423 HGNC:2951 DNAH8 gene DNAH8 Expert Review Amber;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 46, MIM#619095;Asthenozoospermia;primary ciliary dyskinesia 31178125;24307375 False 2 0;50;50 1.40 True ENSG00000124721 ENSG00000124721 HGNC:2952 DNAL1 gene DNAL1 Expert Review Amber;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 16, MIM# 614017 21496787 False 2 0;100;0 1.40 True ENSG00000119661 ENSG00000119661 HGNC:23247 GAS2L2 gene GAS2L2 Expert Review Amber;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 41 (MIM # 618449) 30665704 False 2 50;0;50 1.40 True ENSG00000132139 ENSG00000270765 HGNC:24846 NFKB1 gene NFKB1 Expert list;Expert Review Amber Ciliary Dyskinesia Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Immunodeficiency, common variable, 12 616576" PMID: 32278790 False 2 0;100;0 1.40 True ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB2 gene NFKB2 Expert list;Expert Review Amber Ciliary Dyskinesia Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Immunodeficiency, common variable, 10 615577" PMID: 30941118 False 2 0;100;0 1.40 True ENSG00000077150 ENSG00000077150 HGNC:7795 NME5 gene NME5 Expert Review Amber;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia PMID: 32185794 False 2 50;0;50 1.40 True ENSG00000112981 ENSG00000112981 HGNC:7853 PIK3CD gene PIK3CD Expert list;Expert Review Amber Ciliary Dyskinesia Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Immunodeficiency 14 615513" PMID: 30018075;31111319 False 2 0;100;0 1.40 True Other ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3R1 gene PIK3R1 Expert list;Expert Review Amber Ciliary Dyskinesia Respiratory disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "?Agammaglobulinemia 7, autosomal recessive 615214;Immunodeficiency 36 616005;SHORT syndrome 269880" PMID: 30018075;31111319 False 2 0;100;0 1.40 True Other ENSG00000145675 ENSG00000145675 HGNC:8979 SCNN1A gene SCNN1A Expert Review;Expert Review Amber Ciliary Dyskinesia Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021);MONDO:0013087 22207244;19017867;19462466 False 2 50;50;0 1.40 True ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Expert Review;Expert Review Amber Ciliary Dyskinesia Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400) 22207244;16207733;18507830 False 2 50;50;0 1.40 True ENSG00000168447 ENSG00000168447 HGNC:10600 SPEF2 gene SPEF2 Expert Review Amber;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 43, MIM#618751;Primary ciliary dyskinesia-like phenotype 31151990;31278745;31048344;31942643 False 2 0;100;0 1.40 True ENSG00000152582 ENSG00000152582 HGNC:26293 AKNA gene AKNA Expert Review Red;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia, MONDO:0016575, AKNA-related PMID: 21606955 False 1 0;0;100 1.40 True ENSG00000106948 ENSG00000106948 HGNC:24108 BRWD1 gene BRWD1 Expert Review Red;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 51, MIM# 620438 33389130 False 1 50;0;50 1.40 True ENSG00000185658 ENSG00000185658 HGNC:12760 CFAP221 gene CFAP221 Expert Review Red;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia PMID: 31636325 False 1 0;0;100 1.40 True ENSG00000163075 ENSG00000163075 HGNC:33720 CFAP54 gene CFAP54 Expert Review Red;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, male infertility, mucus accumulation PMID: 26224312 False 1 0;0;100 1.40 True ENSG00000188596 ENSG00000188596 HGNC:26456 GOLGA3 gene GOLGA3 Expert Review Red;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia PMID: 23495255;32367404 False 1 0;0;100 1.40 True ENSG00000090615 ENSG00000090615 HGNC:4426 ITCH gene ITCH Expert Review Red;Literature Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Autoimmune disease, multisystem, with facial dysmorphism 613385;primary ciliary dyskinesia" 20170897;32367404 False 1 0;0;100 1.40 True ENSG00000078747 ENSG00000078747 HGNC:13890 NME8 gene NME8 Expert Review Red;Victorian Clinical Genetics Services Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 6, MIM# 610852 17360648 False 1 0;0;100 1.40 True ENSG00000086288 ENSG00000086288 HGNC:16473 STK36 gene STK36 Expert list;Expert Review Red Ciliary Dyskinesia Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 46, MIM# 619436 28543983 False 1 0;0;100 1.40 True ENSG00000163482 ENSG00000163482 HGNC:17209