Skin disorders - UGent

Gene panel Export to PDF
Full name:
Skin disorders - UGent
Version number:
v4
Laboratory:
Centrum Medische Genetica - UZ Gent
Created:
25 Jun 2019 - 09:12
Changed:
21 Dec 2022 - 14:59
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
AAAS 99.88 1
AAGAB 100.00 1
ABCA12 99.94 1
ABCB6 99.97 1
ABHD5 99.98 1
ADAM10 99.88 1
ADAR 99.84 1
ADGRE2 98.77 1
ALDH3A2 99.95 1
ALOX12B 100.00 1
ALOXE3 99.98 1
ALX4 100.00 1
ANTXR1 99.83 1
ANTXR2 99.67 1
AP1S1 99.49 1
AP3B1 99.89 1
AP3D1 100.00 1
APCDD1 99.99 1
AQP5 99.88 1
ARHGAP31 100.00 1
ARSL 99.93 1
ATP2A2 99.98 1
ATP6V1B2 99.99 1
ATP7A 99.87 1
AXIN2 100.00 1
BANF1 99.84 1
BCS1L 99.99 1
BLM 99.80 1
BLOC1S3 100.00 1
BLOC1S6 99.98 1
BMS1 85.80 1
BRAF 99.78 1
C1QA 99.99 1
C1QB 99.58 1
C1QC 99.97 1
C5 99.92 1
CARD11 99.97 1
CARD14 99.99 1
CASP10 99.85 1
CASP14 99.86 1
CASP8 99.92 1
CAST 99.94 1
CBL 99.95 1
CD151 100.00 1
CDH1 99.98 1
CDH3 99.98 1
CDKN1B 100.00 1
CDKN1C 100.00 1
CDSN 99.94 1
CERS3 99.85 1
CHST8 100.00 1
CHUK 99.83 1
CLDN1 99.99 1
CLDN10 99.97 1
COG6 99.86 1
COL17A1 99.98 1
COL18A1 99.99 1
COL7A1 99.99 1
COX7B 99.86 1
CSTA 99.83 1
CSTB 99.99 1
CTLA4 99.99 1
CTSC 99.97 1
CYLD 99.46 1
CYP11A1 99.99 1
CYP11B1 100.00 1
CYP21A2 99.85 1
CYP26C1 99.92 1
CYP4F22 99.97 1
DCAF17 99.84 1
DCLRE1C 99.79 1
DCPS 99.98 1
DDB2 100.00 1
DHCR24 99.93 1
DIP2B 99.65 1
DKC1 99.59 1
DLL4 100.00 1
DOCK6 100.00 1
DOCK8 99.86 1
DPH1 100.00 1
DSC3 99.73 1
DSG1 99.35 1
DSG3 99.97 1
DSG4 99.91 1
DSP 100.00 1
DST 99.52 1
DSTYK 99.83 1
DTNBP1 99.89 1
EDA 99.44 1
EDAR 99.89 1
EDARADD 99.98 1
EDN3 100.00 1
EDNRA 99.97 1
EDNRB 99.99 1
ELOVL4 99.91 1
ENPP1 99.88 1
EOGT 99.09 1
EPG5 99.95 1
ERCC2 99.98 1
ERCC3 99.90 1
ERCC4 99.92 1
ERCC5 99.99 1
ERCC6 99.60 1
ERCC8 99.79 1
EVC 99.95 1
EVC2 99.97 1
EXPH5 99.81 1
F12 99.99 1
FAM111B 99.98 1
FAS 99.99 1
FASLG 99.84 1
FECH 99.98 1
FERMT1 99.90 1
FGFR1 98.88 1
FGFR3 100.00 1
FOXN1 99.97 1
FZD6 99.95 1
GBA1 96.92 1
GINS1 99.99 1
GJA1 100.00 1
GJB2 100.00 1
GJB3 99.99 1
GJB4 100.00 1
GJB6 100.00 1
GLB1 99.92 1
GPR143 99.60 1
GREM2 100.00 1
GRHL2 100.00 1
GRIN2B 99.99 1
GTF2E2 100.00 1
GTF2H5 100.00 1
HCCS 99.90 1
HCRT 99.85 1
HOXC13 99.98 1
HPGD 99.98 1
HPS1 100.00 1
HPS3 99.91 1
HPS4 99.98 1
HPS5 99.91 1
HPS6 100.00 1
HR 99.95 1
HRAS 100.00 1
HSPA9 99.96 1
IFT122 99.98 1
IFT43 99.97 1
IKBKG 57.34 1
IL2RA 99.99 1
IL31RA 100.00 1
ITGA3 99.86 1
ITGA6 99.78 1
ITGB4 99.99 1
ITPR2 99.13 1
JUP 99.94 1
KCNH1 99.92 1
KCTD1 99.99 1
KDF1 99.86 1
KDSR 99.99 1
KEAP1 100.00 1
KIT 99.86 1
KITLG 99.46 1
KLHL24 99.90 1
KRAS 99.13 1
KREMEN1 99.88 1
KRT1 99.89 1
KRT10 100.00 1
KRT13 99.98 1
KRT14 99.99 1
KRT16 100.00 1
KRT17 100.00 1
KRT2 99.88 1
KRT3 99.89 1
KRT5 99.98 1
KRT6A 100.00 1
KRT6B 99.95 1
KRT6C 96.59 1
KRT7 99.87 1
KRT74 99.92 1
KRT83 100.00 1
KRT85 99.97 1
KRT9 100.00 1
LAMA4 99.90 1
LAMB3 99.99 1
LAMC2 99.54 1
LBR 99.66 1
LIPH 99.99 1
LIPN 99.94 1
LMNA 99.96 1
LMNB2 99.99 1
LORICRIN 100.00 1
LPAR6 99.99 1
LRMDA 99.87 1
LRP1 99.94 1
LYST 99.87 1
LZTR1 99.46 1
MBTPS2 99.81 1
MC1R 100.00 1
MC2R 100.00 1
MC4R 100.00 1
MCM4 99.96 1
MEN1 99.98 1
MITF 99.98 1
MLPH 100.00 1
MMP1 99.99 1
MPDU1 99.97 1
MPLKIP 99.99 1
MSX1 100.00 1
MYO5A 99.94 1
NECTIN1 99.99 1
NECTIN4 99.97 1
NF1 99.88 1
NFKBIA 99.99 1
NIPAL4 100.00 1
NLRC4 99.95 1
NLRP1 95.26 1
NLRP12 99.99 1
NLRP3 100.00 1
NNT 99.87 1
NOP10 99.99 1
NOTCH1 99.98 1
NR5A1 99.92 1
NRAS 99.66 1
NSDHL 99.87 1
NT5C3A 99.95 1
OCA2 99.60 1
OSMR 99.95 1
PADI3 99.35 1
PAX3 100.00 1
PAX6 99.95 1
PDGFRB 99.99 1
PEPD 99.98 1
PEX7 99.72 1
PGM3 99.94 1
PHGDH 99.79 1
PHYH 100.00 1
PIEZO1 99.98 1
PIGL 99.98 1
PIGT 99.95 1
PKP1 99.98 1
PLCD1 99.98 1
PLCG2 99.99 1
PLEC 100.00 1
PMVK 99.60 1
PNPLA1 99.98 1
PNPLA2 100.00 1
PNPLA6 99.99 1
POFUT1 100.00 1
POGLUT1 99.99 1
POLA1 99.57 1
POLH 99.85 1
POMC 99.99 1
PORCN 99.93 1
PRKCD 99.96 1
PRKD1 99.96 1
PSAT1 99.98 1
PSENEN 100.00 1
PSMB8 99.96 1
PTCH1 99.99 1
PTEN 99.89 1
PTPN11 99.98 1
PTPRF 99.92 1
RAB27A 99.94 1
RAD50 99.75 1
RAF1 99.97 1
RAG1 100.00 1
RAG2 100.00 1
RBM28 99.99 1
RBPJ 99.96 1
RECQL4 100.00 1
RET 99.97 1
RHBDF2 99.95 1
RIN2 99.99 1
RIT1 99.78 1
RMRP 100.00 1
RSPO1 99.99 1
SCN9A 99.83 1
SDR9C7 99.99 1
SERPINB7 99.93 1
SERPINB8 99.98 1
SERPING1 100.00 1
SGPL1 99.95 1
SHOC2 99.96 1
SLC24A5 99.99 1
SLC27A4 100.00 1
SLC29A3 99.98 1
SLC39A4 100.00 1
SLC45A2 100.00 1
SLURP1 100.00 1
SMARCA2 99.95 1
SMARCAD1 99.86 1
SNAI2 100.00 1
SNAP29 99.85 1
SNRPE 99.26 1
SOS1 99.68 1
SOS2 99.39 1
SOX10 100.00 1
SOX18 100.00 1
SPINK5 99.91 1
SPINT1 100.00 1
SPRED1 99.99 1
SRD5A3 99.94 1
ST14 100.00 1
ST3GAL5 99.96 1
STAT3 99.97 1
STIM1 99.99 1
STK11 100.00 1
STS 99.81 1
SULT2B1 99.92 1
SUMF1 99.95 1
TAT 99.99 1
TCHH 99.94 1
TERC 98.59 1
TGM1 99.82 1
TGM3 100.00 1
TGM5 100.00 1
TINF2 100.00 1
TP63 99.97 1
TRPM1 99.96 1
TRPS1 100.00 1
TRPV3 99.90 1
TWIST2 100.00 1
TXNRD2 99.97 1
TYRP1 99.97 1
UBR1 99.93 1
UROD 99.32 1
UROS 100.00 1
USB1 89.62 1
VCX 96.04 1
VCX3A 85.19 1
WDR19 99.80 1
WDR35 99.92 1
WNT10A 100.00 1
XPA 99.68 1
XPC 99.98 1
ZMPSTE24 98.70 1