Ciliary beat pattern defect | Functional defect | TEM defect | Gene |
Static | ODA | ODA | DNAH5, DNAI1, DNAI2, DNAL1, NME8, |
ODA docking | ODA | CCDC114, ARNC4, CCDC151, TTC25 | |
Pre-assembly factors | ODA and IDA | DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, LRRC6, ZMYND10, SPAG1, C21ORF59, PIH1D3, CFAP300 | |
Normal/stiff at tip | ODA | ODA type 1 | DNAH9 |
Hyperfrequent/dyskinetic | ODA | Normal | DNAH11 |
Hyperfrequent/dyskinetic/normal | N-DRC | MTD/normal | CCDC164, CCDC65, GAS8 |
Static/normal | ODA | ODA/normal | CCDC103 |
Circling from top view | Radial spoke | Central pair | RSPH1, RSPH4A, RSPH9, RSPH3, DNAJB13 |
Dyskinetic/circling | Central pair | Normal | STK36 |
Normal/C2b | HYDIN | ||
Reduced amplitude/stiff | Axonemal ruler | MTD and IDA | CCDC39, CCDC40 |
Normal | ODA docking | ODA | MNS1 |
Unknown | Normal | CCDC11 | |
Unknown | ENKUR | ||
Normal/dyskinetic | Unknown | Normal | GASL2, LRRC56 |
Ciliary aplasia | RGMC | Mislocalisation of basal bodies and reduction of cilia | CCNO, MCIDAS |
ODA: outer dynein arm; IDA: inner dynein arm; N-DRC: nexin-dynein regulatory complex; MTD: microtubular disorganisation; RGMC: reduced generation of multiple motile cilia.