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;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, 615451 23849778;24203976 False 3 100;0;0 3.8 False ENSG00000169126 ENSG00000169126 HGNC:25583 C11orf70 gene C11orf70 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 38, 618063 29727692;29727693 False 3 100;0;0 3.8 False ENSG00000137691 ENSG00000137691 HGNC:28188 C21orf59 gene C21orf59 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 26, 615500 False 3 100;0;0 3.8 False ENSG00000159079 ENSG00000159079 HGNC:1301 CCDC103 gene CCDC103 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17, 614679 22581229;28790179 False 3 100;0;0 3.8 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20, 615067 23261302;23261303 False 3 100;0;0 3.8 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC151 gene CCDC151 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 30, 616037 25192045;25224326 False 3 100;0;0 3.8 False ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC39 gene CCDC39 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, 613807 21131972;23255504 False 3 100;0;0 3.8 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 15, 613808 23255504;21131974 False 3 100;0;0 3.8 False ENSG00000141519 ENSG00000141519 HGNC:26090 CFAP45 gene CFAP45 Expert Review Green;Literature;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Situs inversus, MONDO:0010029;male infertility due to sperm motility disorder, MONDO:0018395 33139725 False 3 100;0;0 3.8 False ENSG00000213085 ENSG00000213085 HGNC:17229 CFAP52 gene CFAP52 Expert Review Green;Literature;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal visceral heterotaxy, MONDO:0018677 25469542;33139725 False 3 100;0;0 3.8 False ENSG00000166596 ENSG00000166596 HGNC:16053 CFAP53 gene CFAP53 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 6, autosomal recessive, 614779 26531781;22577226;25504577;28621423 False 3 100;0;0 3.8 False ENSG00000172361 ENSG00000172361 HGNC:26530 DNAAF1 gene DNAAF1 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13, 613193 19944405;19944400;18385425 False 3 100;0;0 3.8 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF3 gene DNAAF3 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 2, 606763 22387996 False 3 100;0;0 3.8 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 25, 615482 23872636 False 3 100;0;0 3.8 False ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 18, 614874 23040496;20350728;29363216 False 3 100;0;0 3.8 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH11 gene DNAH11 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 12142464;22184204;22102620 False 3 100;0;0 3.8 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 23261302;11788826;11062149 False 3 100;0;0 3.8 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAH9 gene DNAH9 Expert Review;Expert Review Green Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia, 40, 618300 30471717;30471718 False 3 100;0;0 3.8 False ENSG00000007174 ENSG00000007174 HGNC:2953 DNAI1 gene DNAI1 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 10577904;11231901 False 3 100;0;0 3.8 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 23261302;18950741 False 3 100;0;0 3.8 False ENSG00000171595 ENSG00000171595 HGNC:18744 FOXJ1 gene FOXJ1 Expert list;Expert Review Green Laterality disorders and isomerism MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hydrocephalus;chronic destructive airway disease;randomization of left/right body asymmetry 31630787;9739041;15504371 False 3 100;0;0 3.8 False ENSG00000129654 ENSG00000129654 HGNC:3816 GDF1 gene GDF1 Expert Review Green;NHS GMS Laterality disorders and isomerism BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital heart defects, multiple types, 6, OMIM:613854;Right atrial isomerism (Ivemark), OMIM:208530 20413652;28991257 False 3 100;0;0 3.8 False ENSG00000130283 ENSG00000130283 HGNC:4214 LRRC56 gene LRRC56 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 39, OMIM:618254;Ciliary dyskinesia, primary, 39, MONDO:0032637;Mucociliary Clearance and Laterality Defect 30388400 False 3 100;0;0 3.8 False ENSG00000161328 ENSG00000161328 HGNC:25430 LRRC6 gene LRRC6 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19, 614935 23891469;23122589 False 3 100;0;0 3.8 False ENSG00000129295 ENSG00000129295 HGNC:16725 MMP21 gene MMP21 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 7, autosomal, 616749 26437028;26429889 False 3 100;0;0 3.8 False ENSG00000154485 ENSG00000154485 HGNC:14357 PIH1D3 gene PIH1D3 Expert Review Green;NHS GMS Laterality disorders and isomerism X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliary dyskinesia, primary, 36, X-linked, 300991 24421334;28041644 False 3 100;0;0 3.8 False ENSG00000080572 ENSG00000080572 HGNC:28570 PKD1L1 gene PKD1L1 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 8, autosomal, 617205 31026592;27616478;20080492;21307093;27272319 False 3 67;33;0 3.8 False ENSG00000158683 ENSG00000158683 HGNC:18053 SPAG1 gene SPAG1 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 28, 615505 24055112 False 3 100;0;0 3.8 False ENSG00000104450 ENSG00000104450 HGNC:11212 TTC25 gene TTC25 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 35, OMIM:617092 27486780;33715250;33746037;34215651 False 3 67;33;0 3.8 False ENSG00000204815 ENSG00000204815 HGNC:25280 ZIC3 gene ZIC3 Expert Review Green;NHS GMS Laterality disorders and isomerism X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Heterotaxy, visceral, 1, X-linked, 306955;Congenital heart defects, nonsyndromic, 1, X-linked 9354794 False 3 100;0;0 3.8 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMYND10 gene ZMYND10 Expert Review Green;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 22, 615444 False 3 100;0;0 3.8 False ENSG00000004838 ENSG00000004838 HGNC:19412 ACTC1 gene ACTC1 Expert Review Amber;NHS GMS Laterality disorders and isomerism False 2 0;50;50 3.8 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTG2 gene ACTG2 Expert Review Amber;NHS GMS Laterality disorders and isomerism False 2 0;50;50 3.8 False ENSG00000163017 ENSG00000163017 HGNC:145 CCDC32 gene CCDC32 Expert Review Amber;Literature Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal 32307552 False 2 0;100;0 3.8 False ENSG00000128891 ENSG00000128891 HGNC:28295 CCDC65 gene CCDC65 Expert Review Amber;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 27, OMIM:615504 23991085;24094744 False 2 50;50;0 3.8 False ENSG00000139537 ENSG00000139537 HGNC:29937 CFC1 gene CFC1 Expert Review Amber;NHS GMS Laterality disorders and isomerism MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy, visceral, 2, autosomal, OMIM:605376 11062482;25423076;31633655;18162845 False 2 60;40;0 3.8 False ENSG00000136698 ENSG00000136698 HGNC:18292 CRELD1 gene CRELD1 Expert Review Amber;NHS GMS Laterality disorders and isomerism MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 12632326 False 2 0;100;0 3.8 False ENSG00000163703 ENSG00000163703 HGNC:14630 DAW1 gene DAW1 Expert Review Amber;Literature Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal motile ciliopathy laterality disorder 36074124;28991257 False 2 100;0;0 3.8 False ENSG00000123977 ENSG00000123977 HGNC:26383 DNAAF2 gene DNAAF2 Expert Review Amber;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 10, OMIM:612518 19052621;31107948;32638265 False 2 50;50;0 3.8 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAH1 gene DNAH1 Expert Review Amber;NHS GMS Laterality disorders and isomerism False 2 0;100;0 3.8 False ENSG00000114841 ENSG00000114841 HGNC:2940 DNAH6 gene DNAH6 Expert list;Expert Review Amber Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Heterotaxy;male infertility 26918822 False 2 0;100;0 3.8 False ENSG00000115423 ENSG00000115423 HGNC:2951 DNAH8 gene DNAH8 Expert Review Amber;NHS GMS Laterality disorders and isomerism False 2 0;100;0 3.8 False ENSG00000124721 ENSG00000124721 HGNC:2952 DNAL1 gene DNAL1 Expert Review Amber;NHS GMS Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 16, 614017 21496787 False 2 50;50;0 3.8 False ENSG00000119661 ENSG00000119661 HGNC:23247 FANCB gene FANCB Expert Review Amber;NHS GMS Laterality disorders and isomerism False 2 0;50;50 3.8 False ENSG00000181544 ENSG00000181544 HGNC:3583 LZTFL1 gene LZTFL1 Expert Review Amber;NHS GMS Laterality disorders and isomerism False 2 0;100;0 3.8 False ENSG00000163818 ENSG00000163818 HGNC:6741 MNS1 gene MNS1 Expert Review Amber;Literature Laterality disorders and isomerism BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 9, autosomal, with male infertility, 618948 31534215;30148830;22396656 False 2 100;0;0 3.8 False ENSG00000138587 ENSG00000138587 HGNC:29636 NKX2-5 gene NKX2-5 Expert Review Amber;NHS GMS Laterality disorders and isomerism MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown visceral heterotaxy, MONDO:0018677 25742962;26805889;12414819;25118008 False 2 0;67;33 3.8 False ENSG00000183072 ENSG00000183072 HGNC:2488 NPHP4 gene NPHP4 Expert Review Amber;NHS GMS Laterality disorders and isomerism False 2 0;100;0 3.8 False ENSG00000131697 ENSG00000131697 HGNC:19104