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 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