Neurologia e neuropediatria

Ciliopatias

Lista de Genes
ACVR2B, AHI1, ANKS6, ARL13B, ARL6
B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9
CC2D2A, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP298, CFAP300, CFAP53, CFTR, CPLANE1, CSPP1
DCDC2, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYNC2H1, DYNC2I1, DYNC2I2
EVC, EVC2
FOXJ1
GAS2L2, GAS8, GLIS2
HYDIN
IFT122, IFT140, IFT172, IFT27, IFT80, INPP5E, INVS, IQCB1
KATNIP, KIAA0586, KIF14, KIF7
LRRC56, LZTFL1
MCIDAS, MKKS, MKS1, MRE11
NEK1, NEK10, NEK8, NME8, NODAL, NPHP1, NPHP3, NPHP4
ODAD1, ODAD2, ODAD3, ODAD4, OFD1
PDE6D
RPGR, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9
SDCCAG8, SPAG1, SPEF2, STK36
TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TP73, TRIM32, TTC12, TTC21B, TTC8
WDPCP, WDR19, WDR35
ZIC3, ZMYND10, ZNF423
90 dias
2mL de sangue em tubo com EDTA