Gene | Protein localisation | Functional protein complex | Protein function | OFD subtype | Preaxial polydactyly | Postaxial polydactyly | Retinopathy | Renal anomaly | Cerebral malformation | MTS | Tibial dysplasia | Reference |
OFD1 | Centrosome/BB | OFD1-KIAA0753-FOPNL | Negative regulator of centriole elongation | OFDI | x | x | x | Ferrante et al 20017 | ||||
C2CD3 | Centrosome/TF | - | Positive regulator of centriole elongation | OFDXIV | x | x | x | Thauvin-Robinet et al 20146 | ||||
KIAA0753/OFIP | Centrosome | OFD1-KIAA0753-FOPNL | Recruitment of OFD1 at centriole | OFD VI | x | x | x | Chevrier et al 201634 | ||||
SCTL1 | Centrosome/TF | - | Unknown, ciliogenesis | OFDIX | x | Adly et al201414 | ||||||
TBC1D32 | Centrosome | - | Unknown | OFDIX | x | x | Adly et al201414 | |||||
DDX59 | Cytosol/? | - | Regulation of ciliary signalling | OFDV | x | Present study | ||||||
INTU | BB | CPLANE | IFT-A preassembly | OFDII? | x | x | Toriyama et al 201633 | |||||
WDPCP | BB | CPLANE | IFT-A preassembly | - | x | Toriyama et al 201633 | ||||||
C5orf42 | BB/TZ | CPLANE | IFT-A preassembly | OFDVI | x | x | x | x | Lopes et al 201435 | |||
TCTN3 | TZ | - | Regulation of ciliary signalling | OFDIV | x | x | x | x | x | Thomas et al 201222 | ||
TMEM216 | TZ | MKS | Ciliary gate formation | OFDVI | x | x | x | Valente et al 201043 | ||||
TMEM231 | TZ | MKS | Ciliary gate formation | OFDVI? | x | x | Li et al 201631 | |||||
TMEM107 | TZ | MKS | Ciliary gate formation | OFDVI | x | x | x | x | Lambacher et al 201630 | |||
TMEM138 | TZ | - | Vesicular transport | OFDVI | x | x | Li et al 201631 | |||||
IFT57 | BB/axoneme | IFT-B | Intraflagellar transport | - | x | Thevenon et al 201632 |
BB, basal body; IFT-A, retrograde intraflagellar transport; IFT-B, anterograde intraflagellar transport; MKS, Meckel-Gruber syndrome; MTS, molar tooth sign; OFD, oral–facial–digital; TF, transition fibres.