Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB

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Full name:
Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB
Description:
Kit utilisé : Roche SeqCap EZ custom design
Version number:
version 6
Laboratory:
Centre de Génétique Humaine - Erasme ULB
Created:
15 Jul 2019 - 10:42
Changed:
03 May 2023 - 12:43
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
A2ML1 100.00 0
AAGAB 97.88 0
ABCA12 100.00 0
ABCB6 100.00 0
ABCC6 99.97 0
ABHD5 100.00 0
ACD 100.00 0
ADAM10 100.00 0
ADAMTS2 95.82 0
ADAR 100.00 0
AIM1 100.00 0
AKT1 100.00 0
ALDH18A1 100.00 0
ALDH3A2 99.94 0
ALOX12B 100.00 0
ALOXE3 100.00 0
ANTXR1 100.00 0
AP1S1 100.00 0
AP3B1 100.00 0
APCDD1 99.97 0
AQP5 99.87 0
ARHGAP31 100.00 0
ARSL 99.95 0
ASAH1 100.00 0
ATM 100.00 0
ATP2A2 100.00 0
ATP2C1 100.00 0
ATP6V0A2 99.98 0
ATP6V1A 100.00 0
ATP6V1E1 99.99 0
ATP7A 100.00 0
AXIN2 100.00 0
B3GALT6 63.11 0
B4GALT7 90.91 0
BANF1 97.55 0
BCS1L 100.00 0
BLM 100.00 0
BLOC1S3 95.69 0
BLOC1S6 100.00 0
BRAF 96.86 0
CARD14 99.96 0
CBL 100.00 0
CBS 99.92 0
CD151 99.99 0
CDH3 100.00 0
CDK4 100.00 0
CDKN1B 100.00 0
CDKN2A 99.69 0
CDSN 99.93 0
CERS3 100.00 0
CHST14 99.81 0
CHST8 100.00 0
CHUK 99.59 0
CLCF1 100.00 0
CLDN1 100.00 0
CLDN10 100.00 0
COG6 100.00 0
COL11A1 100.00 0
COL12A1 100.00 0
COL17A1 100.00 0
COL1A1 100.00 0
COL1A2 99.41 0
COL3A1 99.99 0
COL5A1 98.23 0
COL5A2 100.00 0
COL7A1 100.00 0
CREBBP 99.98 0
CRLF1 89.67 0
CSTA 100.00 0
CTC1 99.71 0
CTSC 100.00 0
CYLD 100.00 0
CYP26C1 97.30 0
CYP4F22 99.27 0
DDB2 100.00 0
DIP2B 99.71 0
DKC1 99.92 0
DLL4 100.00 0
DLX3 99.95 0
DNMT1 99.69 0
DOCK6 99.13 0
DOLK 100.00 0
DSC3 98.96 0
DSE 100.00 0
DSG1 100.00 0
DSG2 99.89 0
DSG4 100.00 0
DSP 100.00 0
DST 100.00 0
DTNBP1 99.96 0
ECM1 100.00 0
EDA 99.05 0
EDAR 100.00 0
EDARADD 100.00 0
EDN3 99.95 0
EDNRB 100.00 0
EFEMP2 100.00 0
ELN 99.96 0
ELOVL4 100.00 0
ELP1 100.00 0
ENPP1 97.25 0
EOGT 100.00 0
EP300 100.00 0
EPG5 99.99 0
ERCC2 99.35 0
ERCC3 100.00 0
ERCC4 99.99 0
ERCC5 100.00 0
ERCC6 100.00 0
ERCC8 100.00 0
EVC 94.53 0
EVC2 98.69 0
EXPH5 100.00 0
F12 99.81 0
FAM111B 100.00 0
FAM83G 100.00 0
FBLN5 100.00 0
FBN1 100.00 0
FBN2 100.00 0
FERMT1 99.96 0
FGFR1 100.00 0
FGFR2 100.00 0
FGFR3 99.36 0
FH 100.00 0
FKBP14 100.00 0
FLCN 100.00 0
FLG2 100.00 0
FOXN1 100.00 0
FZD6 100.00 0
GALNT3 100.00 0
GAN 98.95 0
GBA1 100.00 0
GGCX 99.91 0
GHR 99.21 0
GJA1 100.00 0
GJB2 100.00 0
GJB3 100.00 0
GJB4 100.00 0
GJB6 100.00 0
GLA 100.00 0
GLB1 100.00 0
GNAS 100.00 0
GORAB 100.00 0
GPR143 89.17 0
GRHL2 100.00 0
GSN 97.95 0
GTF2E2 100.00 0
GTF2H5 100.00 0
HAMP 100.00 0
HCCS 100.00 0
HDAC8 99.82 0
HFE 100.00 0
HGD 100.00 0
HHAT 93.18 0
HJV 100.00 0
HLCS 100.00 0
HOXC13 96.56 0
HPGD 99.87 0
HPS1 100.00 0
HPS3 99.99 0
HPS4 99.99 0
HPS5 100.00 0
HPS6 96.32 0
HR 99.78 0
HRAS 100.00 0
IFT122 99.99 0
IFT43 100.00 0
IKBKG 96.27 0
IL31RA 100.00 0
INSR 96.81 0
ITGA3 99.99 0
ITGA6 100.00 0
ITGB4 98.77 0
JUP 100.00 0
KANK2 99.99 0
KCNH1 100.00 0
KCTD1 100.00 0
KDF1 100.00 0
KDM6A 99.63 0
KDSR 99.98 0
KIF1A 99.07 0
KIT 99.98 0
KITLG 100.00 0
KL 96.52 0
KLHL24 100.00 0
KLLN 100.00 0
KMT2D 99.99 0
KRAS 100.00 0
KREMEN1 92.10 0
KRT1 99.80 0
KRT10 99.93 0
KRT14 100.00 0
KRT16 99.48 0
KRT17 92.10 0
KRT2 100.00 0
KRT5 100.00 0
KRT6A 100.00 0
KRT6B 100.00 0
KRT6C 99.44 0
KRT71 99.95 0
KRT74 99.99 0
KRT81 100.00 0
KRT83 99.99 0
KRT85 99.27 0
KRT86 99.98 0
KRT9 100.00 0
LAMA4 99.75 0
LAMB3 100.00 0
LAMC2 99.43 0
LEMD3 99.97 0
LIPH 100.00 0
LIPN 100.00 0
LMNA 99.52 0
LMX1B 99.55 0
LORICRIN 100.00 0
LPAR6 100.00 0
LRMDA 100.00 0
LRP1 100.00 0
LTBP4 99.49 0
LYST 100.00 0
LZTR1 99.92 0
MAP2K1 100.00 0
MAP2K2 99.99 0
MAPRE2 100.00 0
MBTPS2 100.00 0
MC1R 100.00 0
MEN1 99.83 0
MITF 100.00 0
MLH1 99.99 0
MLPH 100.00 0
MMP1 99.99 0
MMP2 99.93 0
MPDU1 100.00 0
MPLKIP 100.00 0
MSH2 100.00 0
MSH6 99.92 0
MSMO1 100.00 0
MSX1 99.53 0
MUTYH 100.00 0
MYO5A 99.78 0
NECTIN1 99.68 0
NECTIN4 99.41 0
NF1 98.85 0
NF2 99.97 0
NFKBIA 99.97 0
NGF 100.00 0
NHP2 100.00 0
NIPAL4 100.00 0
NIPBL 99.62 0
NOP10 100.00 0
NOTCH1 98.81 0
NRAS 100.00 0
NSDHL 100.00 0
NT5C3A 100.00 0
NTRK1 98.91 0
OCA2 99.73 0
OFD1 97.68 0
ORAI1 93.55 0
OSMR 100.00 0
PADI3 100.00 0
PARN 100.00 0
PAX3 100.00 0
PDGFRB 100.00 0
PEX7 96.12 0
PHYH 99.87 0
PIGL 100.00 0
PIK3CA 100.00 0
PKP1 100.00 0
PLCD1 99.74 0
PLEC 99.33 0
PLOD1 98.77 0
PLOD3 99.97 0
PMS2 98.83 0
PNPLA1 99.66 0
POFUT1 99.99 0
POGLUT1 100.00 0
POLD1 99.84 0
POLH 100.00 0
PORCN 99.13 0
PPP1CB 100.00 0
PRDM12 83.27 0
PRDM5 100.00 0
PRKAR1A 100.00 0
PRKD1 97.12 0
PSAT1 99.73 0
PSENEN 100.00 0
PTCH1 99.03 0
PTCH2 100.00 0
PTDSS1 100.00 0
PTEN 99.64 0
PTPN11 94.81 0
PYCR1 100.00 0
RAB27A 100.00 0
RAD21 100.00 0
RAF1 100.00 0
RASA2 99.74 0
RBPJ 99.69 0
RECQL4 96.90 0
RET 96.88 0
RETREG1 93.87 0
RHBDF2 100.00 0
RIN2 100.00 0
RIPK4 99.98 0
RIT1 100.00 0
RMRP 100.00 0
RNF113A 100.00 0
RPL21 84.30 0
RRAS 98.63 0
RSPO1 100.00 0
RTEL1 100.00 0
SASH1 99.88 0
SCN11A 99.99 0
SCN9A 99.99 0
SDHB 99.35 0
SDHD 99.95 0
SEC23B 100.00 0
SERPINB7 100.00 0
SERPINB8 100.00 0
SERPING1 97.68 0
SETBP1 100.00 0
SGPL1 100.00 0
SHOC2 100.00 0
SKIC2 100.00 0
SKIC3 99.99 0
SLC24A5 100.00 0
SLC27A4 99.97 0
SLC29A3 95.73 0
SLC2A10 97.06 0
SLC39A13 100.00 0
SLC39A4 100.00 0
SLC45A2 100.00 0
SLC6A19 99.99 0
SLURP1 100.00 0
SMAD3 100.00 0
SMARCAD1 99.97 0
SMARCB1 100.00 0
SMC3 100.00 0
SMPD1 100.00 0
SNAI2 100.00 0
SNAP29 100.00 0
SNRPE 99.04 0
SOS1 100.00 0
SOS2 99.97 0
SOX10 97.31 0
SPINK5 100.00 0
SPRED1 100.00 0
SPRY1 100.00 0
SPTLC1 99.44 0
SRD5A3 98.97 0
ST14 99.95 0
STK11 99.81 0
STS 99.94 0
SUFU 100.00 0
SULT2B1 100.00 0
SUMF1 100.00 0
TAT 100.00 0
TCHH 100.00 0
TERC 100.00 0 t
TERT 93.51 0
TFR2 100.00 0
TGFB2 99.97 0
TGFB3 100.00 0
TGFBR1 91.97 0
TGFBR2 100.00 0
TGM1 100.00 0
TGM3 100.00 0
TGM5 100.00 0
TINF2 99.96 0
TMC6 99.87 0
TNXB 100.00 0
TP63 100.00 0
TRPS1 100.00 0
TRPV3 99.99 0
TSC1 100.00 0
TSC2 99.99 0
TUBB 100.00 0
TWIST2 99.15 0
TYR 100.00 0
TYRP1 100.00 0
UBR1 100.00 0
USB1 100.00 0
UVSSA 100.00 0
VPS33B 100.00 0
WDR19 100.00 0
WDR35 100.00 0
WNK1 100.00 0
WNT10A 94.15 0
WRAP53 100.00 0
WRN 100.00 0
XPA 97.89 0
XPC 100.00 0
ZMPSTE24 100.00 0
ZNF469 99.97 0
ZNF750 100.00 0