List of diseases covered by
Ciliopathy NGS panel
| Gene | Condition |
| ACVR2B | Heterotaxy, visceral, 4, autosomal |
| ADGRV1 | Febrile seizures, familial, 4; Usher syndrome, type 2C |
| AHI1 | Joubert syndrome 3 |
| AIPL1 | Leber congenital amaurosis 4 |
| ALMS1 | Alstrom syndrome |
| ANKS6 | Nephronophthisis 16 |
| ARL13B | Joubert syndrome 8 |
| ARL6 | Retinitis pigmentosa 55; Bardet-Biedl syndrome 3 |
| ARMC4 | Ciliary dyskinesia, primary, 23 |
| ATXN10 | Spinocerebellar ataxia 10 |
| B9D1 | Joubert syndrome 27; Meckel syndrome 9 |
| B9D2 | Joubert syndrome 34 |
| BBS1 | Bardet-Biedl syndrome 1 |
| BBS10 | Bardet-Biedl syndrome 10 |
| BBS12 | Bardet-Biedl syndrome 12 |
| BBS2 | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 |
| BBS4 | Bardet-Biedl syndrome 4 |
| BBS5 | Bardet-Biedl syndrome 5 |
| BBS7 | Bardet-Biedl syndrome 7 |
| BBS9 | Bardet-Biedl syndrome 9 |
| C2CD3 | Orofaciodigital syndrome XIV |
| C2ORF71 | Retinitis pigmentosa 54 |
| C5ORF42 | Joubert syndrome 17; Orofaciodigital syndrome VI |
| C8ORF37 | Bardet-Biedl syndrome 21; Retinitis pigmentosa 64 |
| C21ORF2 | Retinal dystrophy with macular staphyloma; Spondylometaphyseal dysplasia, axial |
| CC2D2A | COACH syndrome, Joubert syndrome 9, Meckel syndrome 6 |
| CCDC103 | Ciliary dyskinesia, primary, 17 |
| CCDC114 | Ciliary dyskinesia, primary, 20 |
| CCDC151 | Ciliary dyskinesia, primary, 30 |
| CCDC28B | Bardet-Biedl syndrome 1, modifier of |
| CCDC39 | Ciliary dyskinesia, primary, 14 |
| CCDC40 | Ciliary dyskinesia, primary, 15 |
| CCDC65 | Ciliary dyskinesia, primary, 27 |
| CCNO | Ciliary dyskinesia, primary, 29 |
| CDH23 | Deafness, autosomal recessive 12; Usher syndrome, type 1D; |
| CFAP298 | Ciliary dyskinesia, primary, 26 |
| CEP104 | Joubert syndrome 25 |
| CEP120 | Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly |
| CEP164 | Nephronophthisis 15 |
| CEP290 | Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; Senior-Loken syndrome 6 |
| CEP41 | Joubert syndrome 15 |
| CEP83 | Nephronophthisis 18 |
| CFTR | Cystic fibrosis; Congenital bilateral absence of vas deferens |
| CLRN1 | Retinitis pigmentosa 61; Usher syndrome, type 3A |
| COMP | Pseudoachondroplasia; Epiphyseal dysplasia, multiple, 1 |
| CRB1 | Leber congenital amaurosis 8; Pigmented paravenous chorioretinal atrophy; Retinitis pigmentosa-12 |
| CSPP1 | Joubert syndrome 21 |
| DCDC2 | Deafness, autosomal recessive 66; Nephronophthisis 19; Sclerosing cholangitis, neonatal |
| DNAAF1 | Ciliary dyskinesia, primary, 13 |
| DNAAF2 | Ciliary dyskinesia, primary, 10 |
| DNAAF3 | Ciliary dyskinesia, primary, 2 |
| DNAAF4 | Ciliary dyskinesia, primary, 25 |
| DNAAF5 | Ciliary dyskinesia, primary, 18 |
| DNAH1 | Ciliary dyskinesia, primary, 37; Spermatogenic failure 18 |
| DNAH11 | Ciliary dyskinesia, primary, 7, with or without situs inversus |
| DNAH5 | Ciliary dyskinesia, primary, 3, with or without situs inversus |
| DNAI1 | Ciliary dyskinesia, primary, 1, with or without situs inversus |
| DNAI2 | Ciliary dyskinesia, primary, 9, with or without situs inversus |
| DNAL1 | Ciliary dyskinesia, primary, 16 |
| DRC1 | Ciliary dyskinesia, primary, 21 |
| DYNC2H1 | Short-rib thoracic dysplasia 3 with or without polydactyly |
| EVC | Ellis-van Creveld syndrome; Weyers acrofacial dysostosis |
| EVC2 | Ellis-van Creveld syndrome; Weyers acrofacial dysostosis |
| GAS8 | Ciliary dyskinesia, primary, 33 |
| GDF1 | Congenital heart defects, multiple types, 6; Right atrial isomerism (Ivemark) |
| GLIS2 | Nephronophthisis 7 |
| IFT43 | Short-rib thoracic dysplasia 18 with polydactyly; Cranioectodermal dysplasia 3 |
| IFT80 | Short-rib thoracic dysplasia 2 with or without polydactyly |
| IFT122 | Cranioectodermal dysplasia 1 |
| IFT140 | Short-rib thoracic dysplasia 9 with or without polydactyly |
| IFT172 | Short-rib thoracic dysplasia 10 with or without polydactyly |
| INPP5E | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis |
| INVS | Nephronophthisis 2, infantile |
| IQCB1 | Senior-Loken syndrome 5 |
| KIAA0586 | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly |
| KIF7 | Joubert syndrome 12 |
| LRRC6 | Ciliary dyskinesia, primary, 19 |
| MKKS | Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome |
| MKS1 | Bardet-Biedl syndrome 13; Joubert syndrome 28; Meckel syndrome 1 |
| NEK1 | Short-rib thoracic dysplasia 6 with or without polydactyly |
| NEK8 | Renal-hepatic-pancreatic dysplasia 2; Nephronophthisis 9 |
| NME8 | Ciliary dyskinesia, primary, 6 |
| NODAL | Heterotaxy, visceral, 5 |
| NPHP1 | Joubert syndrome 4; Nephronophthisis 1, juvenile; Senior-Loken syndrome-1 |
| NPHP3 | Meckel syndrome 7; Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1 |
| NPHP4 | Senior-Loken syndrome 4 |
| OFD1 | Joubert syndrome 10; Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2; Retinitis pigmentosa 23 |
| PDE6D | Joubert syndrome 22 |
| PKD2 | Polycystic kidney disease 2 |
| PKHD1 | Polycystic kidney disease 4, with or without hepatic disease |
| RPGR | Cone-rod dystrophy, X-linked, 1; Macular degeneration, X-linked atrophic; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness |
| RPGRIP1 | Cone-rod dystrophy 13; Leber congenital amaurosis 6 |
| RPGRIP1L | COACH syndrome; Joubert syndrome 7; Meckel syndrome 5 |
| RSPH1 | Ciliary dyskinesia, primary, 24 |
| RSPH3 | Ciliary dyskinesia, primary, 32 |
| RSPH4A | Ciliary dyskinesia, primary, 11 |
| RSPH9 | Ciliary dyskinesia, primary, 12 |
| SDCCAG8 | Bardet-Biedl syndrome 16; Senior-Loken syndrome 7 |
| SPAG1 | Ciliary dyskinesia, primary, 28 |
| TCTN1 | Joubert syndrome 13 |
| TCTN2 | Meckel syndrome 8; Joubert syndrome 24 |
| TCTN3 | Joubert syndrome 18; Orofaciodigital syndrome IV |
| TMEM138 | Joubert syndrome 16 |
| TMEM216 | Joubert syndrome 2; Meckel syndrome 2 |
| TMEM231 | Joubert syndrome 20; Meckel syndrome 11 |
| TMEM237 | Joubert syndrome 14 |
| TMEM67 | RHYNS syndrome; COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; Nephronophthisis 11 |
| TOPORS | Retinitis pigmentosa 31 |
| TRIM32 | Bardet-Biedl syndrome 11; Muscular dystrophy, limb-girdle, autosomal recessive 8 |
| TTC21B | Short-rib thoracic dysplasia 4 with or without polydactyly; Nephronophthisis 12 |
| TTC8 | Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 |
| WDPCP | Bardet-Biedl syndrome 15; Congenital heart defects, hamartomas of tongue, and polysyndactyly |
| WDR19 | Senior-Loken syndrome 8; Nephronophthisis 13; Short-rib thoracic dysplasia 5 with or without polydactyly; Cranioectodermal dysplasia 4 |
| WDR34 | Short-rib thoracic dysplasia 11 with or without polydactyly |
| WDR35 | Short-rib thoracic dysplasia 7 with or without polydactyly; Cranioectodermal dysplasia 2 |
| WDR60 | Short-rib thoracic dysplasia 8 with or without polydactyly |
| XPNPEP3 | Nephronophthisis-like nephropathy 1 |
| ZIC3 | Congenital heart defects, nonsyndromic, 1, X-linked; VACTERL association, X-linked |
| ZMYND10 | Ciliary dyskinesia, primary, 22 |
| ZNF423 | Joubert syndrome 19 |