Congenital structural heart defects - UGent

Gene panel Export to PDF
Full name:
Congenital structural heart defects - UGent
Abbreviation:
CHD panel
Version number:
v1
Laboratory:
Created:
11 Jun 2019 - 10:23
Changed:
16 Dec 2022 - 10:42
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
AATK 99.98 1
ABL1 100.00 1
ACAN 91.51 1
ACTA1 99.99 1
ACTB 100.00 1
ACTC1 98.57 1
ACTG1 100.00 1
ACTN2 99.99 1
ACVR1 99.94 1
ACVR1B 99.99 1
ACVR2A 99.15 1
ACVR2B 99.99 1
ACVRL1 99.88 1
ADAMTS10 99.99 1
ADNP 100.00 1
AKAP12 100.00 1
AKT1 100.00 1
AKT2 99.85 1
ALDH1A2 99.97 1
ALX3 99.74 1
ANKRD1 99.57 1
ANKRD11 99.85 1
AP1B1 99.99 1
APAF1 98.70 1
AR 99.76 1
ARHGAP31 100.00 1
ARID4A 99.90 1
ATP2A2 99.98 1
ATRX 99.44 1
AXIN1 100.00 1
BCOR 99.97 1
BMP10 99.96 1
BMP2 99.79 1
BMP4 100.00 1
BMP6 100.00 1
BMP7 100.00 1
BMPR1A 99.58 1
BMPR2 99.95 1
BRAF 99.78 1
BRIP1 99.39 1
BVES 99.83 1
CASQ2 94.39 1
CAV1 99.97 1
CAV3 100.00 1
CBL 99.95 1
CCDC103 99.68 1
CCDC39 99.74 1
CCDC40 100.00 1
CCDC65 99.80 1
CCN1 99.99 1
CCNO 100.00 1
CD96 99.91 1
CDK13 99.83 1
CDK4 100.00 1
CDX2 100.00 1
CENPF 99.97 1
CFAP53 99.95 1
CFC1 21.93 1
CHAC2 99.68 1
CHD4 99.99 1
CHD7 99.99 1
CHD8 99.96 1
CITED2 100.00 1
COL1A1 99.90 1
COL1A2 99.34 1
COL2A1 99.87 1
COX7B 99.86 1
CREBBP 99.97 1
CRELD1 99.99 1
CRIP2 99.99 1
CRIPTO 99.82 1
CRYAB 100.00 1
CSNK1D 99.99 1
CSRP1 99.75 1
CSRP3 100.00 1
CTNNB1 99.95 1
DDR2 97.39 1
DDX3X 99.01 1
DES 100.00 1
DIAPH3 99.85 1
DICER1 99.96 1
DLGAP5 99.83 1
DLL1 99.99 1
DLL4 100.00 1
DNAAF1 99.99 1
DNAAF11 99.80 1
DNAAF2 99.91 1
DNAAF3 99.99 1
DNAAF4 99.78 1
DNAAF5 99.99 1
DNAH11 99.93 1
DNAH5 99.98 1
DNAH9 99.79 1
DNAI1 99.92 1
DNAI2 99.86 1
DNAJB13 99.91 1
DRC1 99.93 1
DSCAM 99.99 1
DVL1 100.00 1
DYRK1A 99.98 1
E2F1 99.99 1
ECE1 99.92 1
EDNRA 99.97 1
EFEMP2 99.94 1
EFNB1 99.95 1
EFTUD2 99.93 1
EGFR 99.68 1
EGR1 99.99 1
EHMT1 98.38 1
ELN 99.86 1
ENG 100.00 1
EOGT 99.09 1
EP300 99.97 1
EPHB2 99.86 1
EPHB4 99.82 1
ERBB2 99.98 1
ERCC4 99.92 1
ESR2 99.96 1
ETS1 99.99 1
EVC 99.95 1
EVC2 99.97 1
EWSR1 99.94 1
EZH2 99.89 1
F2R 99.98 1
FABP3 99.87 1
FADD 99.97 1
FANCA 100.00 1
FANCB 99.24 1
FANCC 99.98 1
FANCD2 99.86 1
FANCE 99.99 1
FANCF 100.00 1
FANCG 100.00 1
FANCI 99.96 1
FANCL 99.67 1
FBLN1 98.69 1
FBLN7 99.95 1
FBN1 99.85 1
FBN2 99.90 1
FGF10 99.95 1
FGF8 100.00 1
FGFR1 100.00 1
FGFR2 99.99 1
FGFR3 100.00 1
FHL2 100.00 1
FIBP 99.83 1
FLII 100.00 1
FLNA 99.99 1
FLNC 99.99 1
FLT1 99.99 1
FLT4 97.93 1
FN1 99.95 1
FOXC1 100.00 1
FOXC2 100.00 1
FOXH1 100.00 1
FOXK2 99.76 1
FOXL1 100.00 1
FOXL2 99.97 1
FOXO1 100.00 1
FOXP1 99.98 1
FSCN2 100.00 1
G6PC3 99.98 1
GAS8 100.00 1
GATA2 99.99 1
GATA4 99.99 1
GATA5 100.00 1
GATA6 99.90 1
GATAD2B 99.44 1
GDF1 100.00 1
GDF11 99.97 1
GDF5 100.00 1
GDNF 99.99 1
GJA1 100.00 1
GJA5 100.00 1
GJD2 99.99 1
GLB1 100.00 1
GLI2 99.93 1
GLI3 100.00 1
GPC3 99.60 1
GPC5 99.96 1
GPC6 99.98 1
GRK5 99.97 1
GTF2I 47.18 1
GTF2IRD1 99.77 1
HAND1 99.99 1
HAND2 99.97 1
HDAC8 99.74 1
HES4 100.00 1
HEY2 99.75 1
HHAT 99.98 1
HIF1A 99.87 1
HMGB2 99.99 1
HNF1A 100.00 1
HNF4A 100.00 1
HOXA1 100.00 1
HOXB2 99.99 1
HRAS 100.00 1
HSPB1 99.97 1
HSPB8 100.00 1
HSPG2 99.87 1
HYDIN 81.28 1
ID2 100.00 1
IGF1R 100.00 1
IGFBP4 99.85 1
IKBKB 99.93 1
ILK 100.00 1
INHBA 99.98 1
INHBC 99.99 1
INPP5D 99.98 1
INSR 99.99 1
IRS1 100.00 1
IRX4 99.99 1
ISL1 99.99 1
ITGAV 99.40 1
ITGB1 99.96 1
ITGB3 99.83 1
ITGB4 99.99 1
JAG1 100.00 1
JAM3 100.00 1
JUN 100.00 1
KANSL1 99.85 1
KAT6A 99.93 1
KAT6B 99.79 1
KDM3B 99.98 1
KDM5A 99.90 1
KDM5B 97.15 1
KDM6A 99.74 1
KDR 99.86 1
KIT 99.86 1
KMT2D 99.98 1
KRAS 99.13 1
KREMEN1 99.88 1
LAMA2 99.95 1
LAMA5 99.99 1
LAMC1 99.55 1
LBR 99.66 1
LEFTY1 99.98 1
LEFTY2 100.00 1
LHX3 99.99 1
LMNA 99.96 1
LMX1B 100.00 1
LRP2 99.86 1
LTBP1 99.95 1
LTBP3 99.96 1
LZTR1 99.46 1
MAFG 100.00 1
MAP2K1 99.98 1
MAP2K2 99.99 1
MAPK14 99.95 1
MCTP2 99.99 1
MECOM 99.97 1
MED13L 99.99 1
MEF2C 99.57 1
MEGF8 99.90 1
MESP1 100.00 1
MET 99.97 1
METTL3 99.98 1
MGP 99.95 1
MID1 99.90 1
MITF 99.98 1
MMP2 99.96 1
MMP21 99.99 1
MSX1 100.00 1
MTHFD1 100.00 1
MTHFR 99.97 1
MTRR 99.98 1
MYBPC3 99.98 1
MYC 100.00 1
MYH10 99.91 1
MYH11 99.16 1
MYH6 100.00 1
MYH7 99.99 1
MYH9 99.95 1
MYL2 99.99 1
MYL3 99.99 1
MYL7 99.95 1
MYOCD 99.99 1
MYOM1 99.98 1
MYOZ2 99.99 1
NF1 99.88 1
NFATC1 100.00 1
NFIX 99.99 1
NFKB1 99.80 1
NID2 99.97 1
NIPBL 99.34 1
NKX2-1 100.00 1
NKX2-5 99.75 1
NKX2-6 100.00 1
NME8 99.83 1
NNMT 100.00 1
NODAL 99.98 1
NONO 99.94 1
NOS3 93.73 1
NOTCH1 99.98 1
NOTCH2 99.03 1
NOTCH3 99.99 1
NPHP3 99.89 1
NPHP4 99.98 1
NPPA 100.00 1
NR2F2 100.00 1
NR4A2 99.97 1
NRAS 99.66 1
NRP1 99.99 1
NRP2 99.98 1
NSD1 99.98 1
ODAD1 96.04 1
ODAD2 98.19 1
ODAD3 99.96 1
ODAD4 99.85 1
OTX2 100.00 1
PACS1 99.96 1
PAX3 100.00 1
PCSK5 99.97 1
PDGFC 99.97 1
PDGFRA 99.94 1
PDGFRB 99.99 1
PDHX 100.00 1
PIGA 99.81 1
PIGL 99.98 1
PIGN 99.91 1
PIGT 99.95 1
PITX2 99.98 1
PKD1L1 99.84 1
PLAGL1 99.96 1
PLAT 99.99 1
POU5F1 100.00 1
PPARG 99.96 1
PPARGC1A 99.82 1
PPP3CA 99.84 1
PRKACA 99.95 1
PRKD1 99.96 1
PROX1 99.98 1
PRRX1 99.56 1
PSEN1 100.00 1
PSEN2 99.97 1
PTEN 99.89 1
PTK2 99.97 1
PTP4A3 99.99 1
PTPN11 99.98 1
PUF60 100.00 1
RAB23 99.97 1
RAD21 99.91 1
RAD51C 99.02 1
RAF1 99.97 1
RAI1 99.22 1
RAI2 99.98 1
RARB 99.99 1
RARG 99.98 1
RB1 99.84 1
RBBP7 99.87 1
RBL2 99.44 1
RBM10 99.98 1
RBM8A 99.37 1
RELA 99.99 1
RERE 99.94 1
RET 99.97 1
RGS19 99.88 1
RIT1 99.78 1
RNF20 99.93 1
ROR2 99.99 1
RPGR 94.45 1
RPL11 99.81 1
RPL15 31.77 1
RPL26 30.55 1
RPL35A 97.55 1
RPL5 28.81 1
RPS10 0.00 1
RPS17 100.00 1
RPS19 100.00 1
RPS24 91.48 1
RPS26 8.99 1
RPS28 100.00 1
RPS29 99.96 1
RPS7 88.50 1
RSPH1 99.87 1
RSPH3 99.94 1
RSPH4A 99.95 1
RSPH9 99.99 1
RYR2 99.94 1
SALL1 100.00 1
SALL4 100.00 1
SCN5A 100.00 1
SESN1 99.95 1
SF3B4 99.65 1
SGCA 100.00 1
SH3PXD2B 100.00 1
SHH 100.00 1
SHOC2 99.96 1
SLC19A1 99.99 1
SLC25A4 100.00 1
SLC2A10 100.00 1
SLX4 100.00 1
SMAD2 99.92 1
SMAD3 99.99 1
SMAD4 99.97 1
SMAD6 100.00 1
SMARCE1 99.87 1
SMC1A 99.98 1
SMC3 99.91 1
SMG9 99.99 1
SOS1 99.68 1
SOS2 99.39 1
SOX2 100.00 1
SOX4 99.36 1
SP1 99.98 1
SPAG1 99.78 1
SPATC1L 99.99 1
SPECC1L 99.98 1
SRCAP 99.99 1
SRF 99.99 1
STAT3 99.97 1
STRA6 99.95 1
SUZ12 98.58 1
TAB2 99.75 1
TBX1 99.95 1
TBX2 99.97 1
TBX20 99.99 1
TBX3 100.00 1
TBX5 99.98 1
TBX6 99.99 1
TCAP 100.00 1
TCF21 100.00 1
TCF3 100.00 1
TCN2 100.00 1
TEAD1 99.97 1
TEK 99.98 1
TFAP2A 100.00 1
TFAP2B 99.98 1
TFAP2C 100.00 1
TGFB1 100.00 1
TGFB2 99.87 1
TGFB3 100.00 1
TGFBR1 99.94 1
TGFBR2 99.98 1
TGIF1 100.00 1
THBS1 100.00 1
THBS4 100.00 1
THOC5 99.90 1
THRB 99.82 1
TLL1 99.94 1
TNFRSF11A 100.00 1
TNFRSF1A 100.00 1
TNNI3 100.00 1
TNNT2 99.87 1
TNR 99.80 1
TP53 99.98 1
TP73 100.00 1
TPM1 99.92 1
TRPM2 99.99 1
TSR2 99.96 1
TTN 99.15 1
TWIST1 100.00 1
UBE2B 99.94 1
UBE2T 99.89 1
USP44 99.86 1
USP9X 99.84 1
VCAN 99.99 1
VDR 99.86 1
VEGFA 99.99 1
VEGFC 99.96 1
WASHC5 99.98 1
WDR5 100.00 1
WNT11 100.00 1
WT1 99.99 1
YY1 100.00 1
ZEB2 99.97 1
ZFHX3 99.96 1
ZFPM2 100.00 1
ZIC3 99.90 1
ZMYND10 99.99 1