Ciliopathy (120 genes) - UGent

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Full name:
Ciliopathy (120 genes) - UGent
Version number:
Versie 3-Jul-2018 (H9.1-OP2-B16: Genpanel CilioPathy, 3-Jul-2018, in force on 4/07/2018)
Laboratory:
Centrum Medische Genetica - UZ Gent
Created:
11 Jun 2019 - 10:21
Changed:
03 Jan 2023 - 11:25
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ACVR2B 99.99 0
ADAMTS9 99.94 0
AHI1 99.86 0
ALMS1 99.90 0
ANKS6 100.00 0
ARL13B 99.53 0
ARL3 99.98 0
ARL6 99.90 0
ARMC9 99.77 0
B9D1 99.80 0
B9D2 99.88 0
BBIP1 99.99 0
BBS1 100.00 0
BBS10 99.98 0
BBS12 100.00 0
BBS2 99.90 0
BBS4 99.88 0
BBS5 99.00 0
BBS7 99.42 0
BBS9 99.75 0
C2CD3 99.88 0
CBY1 100.00 0
CC2D2A 99.95 0
CCDC103 99.68 0
CCDC172 99.85 0
CCDC28B 99.99 0
CCDC32 99.97 0
CCDC39 99.74 0
CCDC40 100.00 0
CCDC65 99.80 0
CCDC96 100.00 0
CCNO 100.00 0
CENPF 99.97 0
CEP104 99.99 0
CEP120 99.90 0
CEP164 99.99 0
CEP290 98.10 0
CEP295 99.94 0
CEP41 99.99 0
CEP55 99.92 0
CEP83 98.68 0
CFAP251 99.98 0
CFAP298 99.96 0
CFAP300 99.47 0
CFAP410 100.00 0
CFAP418 100.00 0
CFAP44 99.75 0
CFAP53 99.95 0
CFAP69 99.09 0
CFC1 21.93 0
CILK1 99.69 0
CPLANE1 99.81 0
CRB2 99.95 0
CSPP1 98.31 0
DCDC2 99.96 0
DDX59 99.67 0
DEUP1 99.86 0
DHCR7 99.97 0
DLG5 99.91 0
DNAAF1 99.99 0
DNAAF11 99.80 0
DNAAF2 99.91 0
DNAAF3 99.99 0
DNAAF4 99.78 0
DNAAF5 99.99 0
DNAAF6 98.73 0
DNAH1 99.98 0
DNAH11 99.93 0
DNAH5 99.98 0
DNAH8 99.84 0
DNAH9 99.79 0
DNAI1 99.92 0
DNAI2 99.86 0
DNAJB13 99.91 0
DRC1 99.93 0
DYNC2H1 99.66 0
DYNC2I1 99.99 0
DYNC2I2 99.98 0
DYNC2LI1 99.94 0
DYNLT2B 100.00 0
EVC 99.95 0
EVC2 99.97 0
EXOC3L2 99.88 0
EXOC6B 99.41 0
EXOC8 99.99 0
EXTL3 99.99 0
FAM149B1 99.69 0
FAM166B 99.99 0
FOXF1 99.99 0
FUZ 99.99 0
GAS2L2 100.00 0
GAS8 100.00 0
GLI3 100.00 0
GLIS2 100.00 0
HNF1B 100.00 0
HYDIN 81.28 0
HYLS1 100.00 0
IFT122 99.98 0
IFT140 100.00 0
IFT172 99.98 0
IFT27 100.00 0
IFT43 99.97 0
IFT52 99.82 0
IFT74 99.71 0
IFT80 99.69 0
IFT81 94.64 0
INPP5E 99.85 0
INTS13 98.20 0
INTU 99.92 0
INVS 99.94 0
IQCB1 99.72 0
IQCE 99.77 0
KATNIP 99.13 0
KCTD3 99.75 0
KIAA0586 95.75 0
KIAA0753 100.00 0
KIF14 97.80 0
KIF3B 99.99 0
KIF7 100.00 0
LBR 99.66 0
LCA5 99.89 0
LRRC34 99.52 0
LRRC45 99.98 0
LRRC56 99.98 0
LZTFL1 100.00 0
MAPKBP1 99.98 0
MCIDAS 100.00 0
MKKS 100.00 0
MKS1 99.92 0
MMP21 99.99 0
MRE11 99.93 0
NCAPG2 99.97 0
NEK1 99.83 0
NEK9 99.96 0
NME5 99.81 0
NME8 99.83 0
NPHP1 99.05 0
NPHP3 99.89 0
NPHP4 99.98 0
OCRL 99.89 0
ODAD1 96.04 0
ODAD2 98.19 0
ODAD3 99.96 0
ODAD4 99.85 0
OFD1 99.68 0
PDE6D 99.94 0
PIBF1 99.90 0
PIK3C2A 99.92 0
PKD1 99.98 0
PKD2 99.91 0
PKHD1 99.95 0
PMFBP1 99.89 0
PMM2 99.93 0
POC1A 99.98 0
POC1B 100.00 0
RAB28 99.97 0
RPGR 94.45 0
RPGRIP1L 96.35 0
RSPH1 99.87 0
RSPH3 99.94 0
RSPH4A 99.95 0
RSPH9 99.99 0
SBDS 99.93 0
SCLT1 95.17 0
SCNM1 99.47 0
SDCCAG8 100.00 0
SLC30A7 94.71 0
SPAG1 99.78 0
STK36 99.98 0
SUFU 100.00 0
TBC1D32 99.75 0
TCTN1 99.92 0
TCTN2 99.99 0
TCTN3 99.92 0
TMEM107 100.00 0
TMEM138 100.00 0
TMEM17 99.96 0
TMEM216 99.98 0
TMEM218 99.94 0
TMEM231 88.88 0
TMEM237 99.30 0
TMEM260 99.90 0
TMEM67 99.69 0
TOGARAM1 99.93 0
TOPORS 99.99 0
TRAF3IP1 99.96 0
TRIM32 100.00 0
TTC21B 99.50 0
TTC23 99.87 0
TTC26 99.97 0
TTC6 99.77 0
TTC8 99.67 0
TUBGCP4 99.80 0
TULP1 99.99 0
TULP3 99.91 0
TXNDC15 99.78 0
VHL 100.00 0
VPS13B 99.90 0
WDPCP 99.87 0
WDR19 99.80 0
WDR35 99.92 0
XPNPEP3 99.99 0
ZFYVE19 99.99 0
ZIC3 99.90 0
ZMYND10 99.99 0
ZNF423 98.94 0
ZSWIM6 98.94 0