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 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000114739 ENSG00000114739 HGNC:174 ARMC4 gene ARMC4 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000169126 ENSG00000169126 HGNC:25583 C11orf70 gene C11orf70 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000137691 ENSG00000137691 HGNC:28188 C21orf59 gene C21orf59 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000159079 ENSG00000159079 HGNC:1301 CCDC103 gene CCDC103 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC151 gene CCDC151 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC39 gene CCDC39 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC65 gene CCDC65 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000139537 ENSG00000139537 HGNC:29937 CCNO gene CCNO Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000152669 ENSG00000152669 HGNC:18576 CFAP53 gene CFAP53 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000172361 ENSG00000172361 HGNC:26530 CFC1 gene CFC1 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000136698 ENSG00000136698 HGNC:18292 CRELD1 gene CRELD1 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000163703 ENSG00000163703 HGNC:14630 DNAAF1 gene DNAAF1 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH1 gene DNAH1 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000114841 ENSG00000114841 HGNC:2940 DNAH11 gene DNAH11 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAJB13 gene DNAJB13 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000187726 ENSG00000187726 HGNC:30718 DNAL1 gene DNAL1 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000119661 ENSG00000119661 HGNC:23247 DRC1 gene DRC1 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000157856 ENSG00000157856 HGNC:24245 GAS8 gene GAS8 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000141013 ENSG00000141013 HGNC:4166 GDF1 gene GDF1 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000130283 ENSG00000130283 HGNC:4214 HYDIN gene HYDIN Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000157423 ENSG00000157423 HGNC:19368 LRRC56 gene LRRC56 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000161328 ENSG00000161328 HGNC:25430 LRRC6 gene LRRC6 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000129295 ENSG00000129295 HGNC:16725 MMP21 gene MMP21 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000154485 ENSG00000154485 HGNC:14357 NME8 gene NME8 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000086288 ENSG00000086288 HGNC:16473 NODAL gene NODAL Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000156574 ENSG00000156574 HGNC:7865 PIH1D3 gene PIH1D3 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000080572 ENSG00000080572 HGNC:28570 PKD1L1 gene PKD1L1 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000158683 ENSG00000158683 HGNC:18053 RSPH1 gene RSPH1 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH3 gene RSPH3 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000130363 ENSG00000130363 HGNC:21054 RSPH4A gene RSPH4A Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000172426 ENSG00000172426 HGNC:21057 SPAG1 gene SPAG1 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000104450 ENSG00000104450 HGNC:11212 TTC25 gene TTC25 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000204815 ENSG00000204815 HGNC:25280 ZIC3 gene ZIC3 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMYND10 gene ZMYND10 Expert Review Green;NHS GMS GMS Respiratory specialist test group Laterality disorders and isomerism False 3 100;0;0 0.5 False ENSG00000004838 ENSG00000004838 HGNC:19412