Table 1.
Currently known genes that are involved in skeletal ciliopathies
| Disease | Ift complex A | Ift complexes B | Ift Motors | others | References |
|---|---|---|---|---|---|
| JATD | TTC21B, WDR19, Ift140 | Ift80 | DYNC2H1 | (35, 108, 109, 111, 233) | |
| MSS | Ift140 | (111) | |||
| BBS | BBS1-BBS16 | (114) | |||
| EVC | Evc and Evc2 | (117–120) | |||
| WAD | Evc2 | (121) | |||
| OFD | OFD1 | (126) | |||
| SRP type II | DYNC2H1 | NEK1 | (128, 131) | ||
| SRP type III | Ift80 | DYNC2H1 | (35, 130) | ||
| SRP severe type | WDR35 | (34) | |||
| CED | Ift122, Ift43, WDR35, WDR19 | (109, 132, 135–137) | |||
| MKS | BBS2, BBS4, BBS6, MKS1/FLJ20345, MKS3/TMEM67, TMEM216, CEP290, RPGRIP1L, CC2D2A, TCTN2, B9D1, B9D2, and NPHP3 | (114) |
Jeune asphyxiating thoracic dystrophy (JATD), Intraflagellar transport (Ift), Mainzer-Saldino-syndrome (MSS), Bardet-Biedl syndrome (BBS), Ellis-van Creveld syndrome (EVC), WAD (Weyers acrofacial dysostosis), oralfacialdigital syndrome (OFD), short rib polydactyly syndromes (SRP), cranioectodermal dysplasia (CED), Meckel syndrome (MKS)