Heterotaxie PCD - UGent

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Full name:
Heterotaxie PCD - UGent
Description:
H9.1-OP2-B11: Genpanel Heterotaxie PCD, V1, in force on 18/12/2017
Version number:
V1 (92 genen)
Laboratory:
Centrum Medische Genetica - UZ Gent
Created:
15 Dec 2020 - 16:24
Changed:
12 Apr 2023 - 10:09
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ACTC1 98.57 0
ACVR2B 99.99 0
AK7 99.93 0
ALMS1 99.90 0
ANKS6 100.00 0
BBS1 100.00 0
BBS10 99.98 0
BBS2 99.90 0
BCL9L 99.99 0
BCOR 99.97 0
BRAF 99.78 0
C1orf127 99.98 0
CBL 99.95 0
CCDC103 99.68 0
CCDC39 99.74 0
CCDC40 100.00 0
CCDC65 99.80 0
CCNO 100.00 0
CENPF 99.97 0
CEP164 99.99 0
CEP290 98.10 0
CFAP298 99.96 0
CFAP300 99.47 0
CFAP45 99.97 0
CFAP52 99.92 0
CFAP53 99.95 0
CFAP58 99.96 0
CFC1 21.93 0
CFTR 99.45 0
CHD7 99.99 0
CIROP 91.91 0
CITED2 100.00 0
CRELD1 99.99 0
DAW1 99.90 0
DGAT2L6 99.97 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
DNAH12 99.36 0
DNAH14 99.64 0
DNAH17 99.98 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
DYNC1H1 99.99 0
DYNLT2 99.95 0
ELN 99.86 0
EVC 99.95 0
EVC2 99.97 0
FOXF1 99.99 0
FOXH1 100.00 0
FOXJ1 100.00 0
GAS2L2 100.00 0
GAS8 100.00 0
GATA4 99.99 0
GATA6 99.90 0
GDF1 100.00 0
GJA1 100.00 0
GPC3 99.60 0
HAND1 99.99 0
HES7 100.00 0
HYDIN 81.28 0
IFT46 99.58 0
INVS 99.94 0
JAG1 100.00 0
KIF7 100.00 0
LEFTY1 99.98 0
LEFTY2 100.00 0
LMBRD1 99.67 0
LMNA 99.96 0
LRRC56 99.98 0
LZTFL1 100.00 0
MAP2K1 99.98 0
MAP2K2 99.99 0
MCIDAS 100.00 0
MED13L 99.99 0
MEGF8 99.90 0
MEIS2 99.97 0
MKS1 99.92 0
MMP21 99.99 0
MNS1 99.86 0
MRE11 99.93 0
MYH6 100.00 0
NAT10 99.97 0
NEK10 96.92 0
NEK9 99.99 0
NKX2-5 99.75 0
NKX2-6 100.00 0
NME5 99.81 0
NME8 99.83 0
NODAL 99.98 0
NOTCH1 99.98 0
NOTCH2 99.03 0
NPHP3 99.89 0
NR2F2 100.00 0
NSD1 99.98 0
ODAD1 96.04 0
ODAD2 98.19 0
ODAD3 99.96 0
ODAD4 99.85 0
OFD1 99.68 0
PITRM1 99.89 0
PKD1L1 99.84 0
PKD2 99.91 0
PQBP1 99.99 0
PRRX1 99.56 0
PTPN11 99.98 0
RAF1 99.97 0
RIT1 99.78 0
RPGR 94.45 0
RSPH1 99.87 0
RSPH3 99.94 0
RSPH4A 99.95 0
RSPH9 99.99 0
SERPINE2 99.97 0
SHOC2 99.96 0
SHROOM3 99.99 0
SMAD2 99.92 0
SMAD6 100.00 0
SOS1 99.68 0
SPAG1 99.78 0
SPEF2 99.93 0
STK36 99.98 0
TBX1 99.95 0
TBX5 99.98 0
TCTN2 99.99 0
TP73 100.00 0
TTC12 99.97 0
TTC8 99.67 0
UBR1 99.93 0
WDR35 99.92 0
WDR47 95.08 0
ZFPM2 100.00 0
ZIC3 99.90 0
ZMPSTE24 98.70 0
ZMYND10 99.99 0
ZNF423 98.94 0