Neuropathy panel - UGent

Gene panel Export to PDF
Full name:
Neuropathy panel - UGent
Version number:
v2
Laboratory:
Centrum Medische Genetica - UZ Gent
Created:
05 Oct 2021 - 13:56
Changed:
21 Dec 2022 - 13:27
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
AARS1 99.99 1
ABCA1 99.92 1
ABHD12 99.98 1
AGTPBP1 99.68 1
AGXT 100.00 1
AHNAK2 97.58 1
AIFM1 99.92 1
AMACR 100.00 1
AP1S1 99.49 1
APOA1 100.00 1
APTX 99.92 1
AR 99.76 1
ARHGEF10 100.00 1
ARSA 99.99 1
ASAH1 99.90 1
ASCC1 90.99 1
ATAD3A 99.62 1
ATL1 99.95 1
ATL3 99.75 1
ATM 99.83 1
ATP1A1 98.41 1
ATP7A 99.87 1
B4GALNT1 99.97 1
BAG3 100.00 1
BCKDHB 99.73 1
BICD2 99.99 1
BSCL2 99.99 1
CCT5 99.99 1
CD59 100.00 1
CFAP276 98.35 1
CHCHD10 100.00 1
CNTNAP1 99.98 1
COA7 99.91 1
COX6A1 99.98 1
CPOX 99.99 1
CTDP1 99.97 1
CYP27A1 100.00 1
DARS2 98.31 1
DCAF8 99.83 1
DCTN1 99.98 1
DEGS1 99.99 1
DGAT2 99.99 1
DGUOK 99.93 1
DHTKD1 99.95 1
DNAJB2 99.97 1
DNAJC3 99.92 1
DNM2 99.99 1
DNMT1 99.13 1
DRP2 99.94 1
DST 99.52 1
DYNC1H1 99.99 1
EGR2 100.00 1
ELP1 99.96 1
ERCC6 99.60 1
ERCC8 99.79 1
ETFDH 99.82 1
EXOSC3 100.00 1
EXOSC8 99.91 1
EXOSC9 94.91 1
FANCA 99.98 1
FBLN5 100.00 1
FBXO38 99.96 1
FGD4 99.87 1
FIG4 99.83 1
FLVCR1 99.91 1
FXN 99.96 1
GALC 99.92 1
GAN 99.98 1
GARS1 99.93 1
GBA2 99.99 1
GBF1 99.97 1
GDAP1 99.98 1
GJB1 100.00 1
GJC2 100.00 1
GLA 99.90 1
GNB4 99.96 1
GNE 99.99 1
GSN 99.93 1
HADHA 99.98 1
HADHB 99.82 1
HARS1 99.96 1
HCRT 99.85 1
HINT1 99.86 1
HK1 99.97 1
HMBS 99.97 1
HSPB1 99.97 1
HSPB3 99.97 1
HSPB8 100.00 1
HYCC1 99.81 1
IARS2 99.77 1
IGHMBP2 99.92 1
INF2 99.99 1
ITPR3 99.98 1
JAG1 100.00 1
KARS1 99.98 1
KCNA2 99.99 1
KIF1A 99.96 1
KIF1B 99.97 1
KIF26B 100.00 1
KIF5A 99.91 1
LITAF 83.22 1
LMNA 99.96 1
LRSAM1 99.99 1
LYST 99.87 1
MARS1 99.97 1
MCM3AP 99.98 1
MED12 99.95 1
MFN2 99.98 1
MICAL1 99.99 1
MMACHC 99.98 1
MME 97.17 1
MORC2 100.00 1
MPV17 99.98 1
MPZ 99.99 1
MTMR2 99.94 1
MTRFR 99.87 1
MTTP 99.92 1
MYH7B 99.98 1
NAGA 100.00 1
NAGLU 100.00 1
NDRG1 99.99 1
NEFH 100.00 1
NEFL 100.00 1
NGF 100.00 1
NMNAT2 99.79 1
NTRK1 99.86 1
OPA3 100.00 1
PDHA1 99.04 1
PDK3 99.49 1
PDYN 100.00 1
PEX10 100.00 1
PEX7 99.72 1
PHYH 100.00 1
PLEKHG5 99.99 1
PLP1 99.98 1
PMM2 99.93 1
PMP2 99.93 1
PMP22 100.00 1
PNKP 100.00 1
PNPLA6 99.99 1
POLG 100.00 1
POLG2 99.51 1
POLR3A 99.97 1
PRDM12 100.00 1
PRKCG 99.99 1
PRPS1 99.95 1
PRUNE1 99.85 1
PRX 99.99 1
PTEN 99.89 1
PTPN11 99.98 1
PTRH2 99.99 1
RAB7A 100.00 1
RBM7 99.99 1
REEP1 99.97 1
RETREG1 99.99 1
SACS 99.97 1
SBF1 99.99 1
SBF2 99.77 1
SCARB2 99.99 1
SCN10A 99.99 1
SCN11A 99.94 1
SCN9A 99.83 1
SCO2 100.00 1
SCYL1 100.00 1
SEPTIN9 99.99 1
SETX 99.97 1
SGPL1 99.95 1
SH3TC2 100.00 1
SIGMAR1 99.99 1
SLC12A6 99.98 1
SLC25A19 99.99 1
SLC25A21 99.98 1
SLC25A46 99.88 1
SLC52A2 100.00 1
SLC52A3 99.94 1
SLC5A7 99.57 1
SMN1 7.60 1
SMN2 6.68 1
SORD 85.52 1
SOX10 100.00 1
SPAST 99.77 1
SPG11 99.89 1
SPG7 99.99 1
SPTAN1 99.96 1
SPTBN4 99.91 1
SPTLC1 99.74 1
SPTLC2 99.95 1
SUCLA2 99.96 1
SURF1 100.00 1
TFG 98.68 1
TRIM2 99.98 1
TRIP4 99.97 1
TRPA1 99.67 1
TRPV4 100.00 1
TTPA 99.88 1
TTR 100.00 1
TUBB3 100.00 1
TWNK 100.00 1
TYMP 99.87 1
UBA1 99.93 1
VAPB 100.00 1
VCP 99.99 1
VPS13A 99.68 1
VRK1 99.98 1
WARS1 99.97 1
WNK1 99.98 1
XK 99.98 1
XPA 99.68 1
XRCC1 99.96 1
YARS1 99.29 1
ZFYVE26 100.00 1