Neuropathy (genepanel) - UZA

Gene panel Export to PDF
Full name:
Neuropathy (genepanel) - UZA
Description:
https://labogidsmedgen.uza.be/analyses/perifere-neuropathie-pn
Version number:
PN_versie 3
Laboratory:
Centrum Medische Genetica - UZ Antwerpen
Created:
11 Dec 2020 - 08:58
Changed:
27 Nov 2023 - 09:14
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
AARS1 99.94 1
ABCA1 99.92 1
ABHD12 99.11 1
ADPRS 100.00 1
AGTPBP1 99.40 1
AIFM1 99.43 1
ARHGEF10 100.00 1
ARSA 100.00 1
ATL1 99.95 1
ATL3 99.86 1
ATM 99.83 1
ATP1A1 99.94 1
ATP7A 99.35 1
B4GALNT1 99.95 1
BAG3 100.00 1
BICD2 100.00 1
BSCL2 100.00 1
CADM3 99.94 1
CD59 99.97 1
CFAP276 99.73 1
CHCHD10 97.06 1
CLTCL1 99.98 1
CNTNAP1 99.80 1
COA7 100.00 1
COX20 99.40 1
COX6A1 99.99 1
CTDP1 98.02 1
CTNNB1 99.98 1
CYP27A1 99.96 1
DARS2 99.86 1
DCAF8 99.98 1
DCTN1 99.95 1
DGAT2 99.99 1
DGUOK 99.76 1
DHTKD1 99.88 1
DNAJB2 100.00 1
DNAJC3 99.58 1
DNM2 99.96 1
DNMT1 99.88 1
DRP2 99.45 1
DST 99.92 1
DYNC1H1 99.97 1
EGR2 100.00 1
ELP1 99.96 1
ETFDH 99.76 1
FBLN5 92.79 1
FBXO38 99.93 1
FGD4 99.89 1
FIG4 99.94 1
FLVCR1 99.93 1
FXN 97.92 1
GALC 99.88 1
GAN 99.84 1
GARS1 99.86 1
GBA2 99.97 1
GBE1 99.84 1
GBF1 99.95 1
GDAP1 99.93 1
GJB1 99.99 1
GJB3 100.00 1
GJC2 96.12 1
GLA 99.64 1
GNB4 99.95 1
GSN 97.83 1
HADHA 99.96 1
HADHB 99.97 1
HARS1 99.99 1
HINT1 99.96 1
HK1 96.86 1
HNRNPA1 100.00 1
HOXD10 100.00 1
HSPB1 99.83 1
HSPB3 100.00 1
HSPB8 99.90 1
IARS2 99.96 1
IFRD1 99.96 1
IGHMBP2 99.99 1
INF2 97.15 1
ITPR3 99.88 1
JAG1 99.92 1
KIF1A 99.96 1
KIF5A 99.93 1
LITAF 100.00 1
LMNA 99.98 1
LRSAM1 99.97 1
LYST 99.92 1
MCM3AP 99.96 1
MFN2 99.96 1
MMACHC 99.99 1
MME 97.69 1
MORC2 99.98 1
MPV17 100.00 1
MPZ 99.97 1
MTMR2 99.98 1
MTRFR 99.85 1
MYH14 99.79 1
NAGA 99.99 1
NAGLU 98.00 1
NARS1 99.74 1
NDRG1 100.00 1
NEFH 98.77 1
NEFL 99.99 1
NGF 99.99 1
NTRK1 99.67 1
PCYT2 97.60 1
PDK3 98.86 1
PEX7 99.87 1
PHYH 99.65 1
PIEZO2 99.88 1
PLD3 99.99 1
PLEKHG5 99.66 1
PLP1 99.93 1
PMM2 99.94 1
PMP2 99.95 1
PMP22 100.00 1
PNKP 100.00 1
PNPLA6 99.88 1
POLG 99.98 1
POLR3B 99.88 1
PPOX 99.94 1
PRDM12 99.60 1
PRKCG 99.90 1
PRNP 100.00 1
PRPS1 99.79 1
PRX 99.94 1
PTEN 99.15 1
PTPN11 99.91 1
PTRH2 99.97 1
RAB7A 99.94 1
REEP1 99.99 1
RETREG1 99.92 1
RFC1 99.44 1
SACS 99.98 1
SBF1 99.97 1
SBF2 99.92 1
SCARB2 99.94 1
SCN10A 99.97 1
SCN11A 99.77 1
SCN9A 99.96 1
SCO2 100.00 1
SCYL1 99.64 1
SEPTIN9 99.94 1
SETX 99.96 1
SH3TC2 99.98 1
SIGMAR1 99.99 1
SLC12A6 99.88 1
SLC25A19 99.99 1
SLC25A46 99.93 1
SLC52A2 100.00 1
SLC52A3 100.00 1
SLC5A7 99.97 1
SORD 92.86 1
SOX10 100.00 1
SPAST 99.83 1
SPG11 99.94 1
SPG7 99.99 1
SPTAN1 99.97 1
SPTBN4 99.19 1
SPTLC1 99.98 1
SPTLC2 99.94 1
SPTLC3 99.94 1
SURF1 97.64 1
SYT2 99.89 1
TBCE 99.69 1
TBCK 99.76 1
TECPR2 99.90 1
TFG 99.34 1
TRIM2 99.99 1
TRPV4 99.96 1
TTPA 99.97 1
TTR 100.00 1
TUBB3 100.00 1
TWNK 100.00 1
UCHL1 99.99 1
VAPB 99.94 1
VCP 99.92 1
VPS13A 99.60 1
VRK1 99.94 1
VWA1 91.35 1
WARS1 99.79 1
WNK1 99.94 1
XRCC1 99.94 1
YARS1 99.96 1
ZFHX2 99.98 1
ZFYVE26 99.96 1