Congenital structural heart defects - UGent
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 |