Inherited Peripheral Neuropathies gene panel (165 genes) - KUL

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Full name:
Inherited Peripheral Neuropathies gene panel (165 genes) - KUL
Abbreviation:
IPN
Version number:
v6-2022
Laboratory:
Centrum Menselijke Erfelijkheid - KUL
Created:
28 Jun 2019 - 09:53
Changed:
16 Apr 2024 - 09:20
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
AARS1 99.98 0 ,
ABCD1 99.97 0 ,
ABHD12 98.57 0 ,
ADPRS 99.98 0 ,
AGTPBP1 99.93 0 ,
AIFM1 99.99 0 ,
APTX 99.61 0 ,
ARHGEF10 99.99 0 ,
ATL1 99.99 0 ,
ATL3 99.99 0 ,
ATP1A1 99.98 0 ,
ATP7A 99.99 0 ,
B4GALNT1 99.95 0 ,
BAG3 99.99 0 ,
BICD2 99.98 0 ,
BSCL2 99.98 0 ,
CADM3 99.99 0 ,
CCT5 99.99 0 ,
CD59 99.98 0 ,
CFAP276 99.99 0 ,
CHCHD10 99.42 0 ,
CLTCL1 99.98 0 ,
CNTNAP1 99.98 0 ,
COA7 99.99 0 ,
COX6A1 99.99 0 ,
CPOX 99.85 0 ,
CTDP1 99.13 0 ,
CYP27A1 100.00 0 ,
DCAF8 100.00 0 ,
DCTN1 100.00 0 ,
DCTN2 100.00 0 ,
DGAT2 99.93 0 ,
DHTKD1 99.99 0 ,
DNAJB2 99.99 0 ,
DNM2 99.97 0 ,
DNMT1 99.76 0 ,
DRP2 99.97 0 ,
DST 100.00 0 ,
DYNC1H1 99.99 0 ,
EGR2 99.99 0 ,
ELP1 99.99 0 ,
FBLN5 99.97 0 ,
FBXO38 99.99 0 ,
FGD4 99.96 0 ,
FIG4 100.00 0 ,
GAN 99.96 0 ,
GARS1 99.98 0 ,
GBF1 100.00 0 ,
GDAP1 100.00 0 ,
GJB1 99.96 0 ,
GJB3 100.00 0 ,
GLA 100.00 0 ,
GNB4 99.99 0 ,
GSN 99.43 0 ,
HADHA 99.99 0 ,
HADHB 99.99 0 ,
HARS1 99.97 0 ,
HEXA 99.99 0 ,
HEXB 100.00 0 ,
HINT1 100.00 0 ,
HK1 99.99 0 ,
HMBS 100.00 0 ,
HNRNPA1 99.99 0 ,
HOXD10 100.00 0 ,
HSPB1 99.97 0 ,
HSPB3 99.99 0 ,
HSPB8 100.00 0 ,
IARS2 99.92 0 ,
IFRD1 99.96 0 ,
IGHMBP2 100.00 0 ,
INF2 99.97 0 ,
ITPR3 99.94 0 ,
KARS1 99.95 0 ,
KIF1A 99.97 0 ,
KIF1B 99.97 0 ,
KIF5A 99.99 0 ,
LITAF 100.00 0 ,
LMNA 99.99 0 ,
LRSAM1 100.00 0 ,
MARS1 99.99 0 ,
MCM3AP 99.99 0 ,
MED25 99.99 0 ,
MFN2 99.99 0 ,
MME 99.99 0 ,
MORC2 99.99 0 ,
MPV17 100.00 0 ,
MPZ 99.98 0 ,
MTMR2 99.99 0 ,
MTRFR 100.00 0 ,
MYH14 99.95 0 ,
NAGLU 98.71 0 ,
NDRG1 99.93 0 ,
NEFH 99.80 0 ,
NEFL 99.91 0 ,
NGF 100.00 0 ,
NTRK1 99.97 0 ,
OPA1 100.00 0 ,
OPA3 100.00 0 ,
PDK3 99.94 0 ,
PDXK 99.99 0 ,
PEX1 99.98 0 ,
PEX7 99.90 0 ,
PHYH 99.94 0 ,
PIEZO2 99.95 0 ,
PIGB 99.97 0 ,
PLD3 100.00 0 ,
PLEKHG5 99.93 0 ,
PMP2 99.98 0 ,
PMP22 100.00 0 ,
PNKP 100.00 0 ,
POLG 99.95 0 ,
POLR3B 99.98 0 ,
PPOX 100.00 0 ,
PRDM12 92.40 0 ,
PRNP 99.86 0 ,
PRPS1 99.97 0 ,
PRX 99.83 0 ,
PTRH2 100.00 0 ,
RAB7A 100.00 0 ,
REEP1 99.96 0 ,
RETREG1 99.71 0 ,
SBF1 99.98 0 ,
SBF2 99.99 0 ,
SCN10A 99.99 0 ,
SCN11A 99.97 0 ,
SCN9A 99.99 0 ,
SCO2 100.00 0 ,
SCP2 99.99 0 ,
SEPTIN9 99.87 0 ,
SETX 99.99 0 ,
SGPL1 99.99 0 ,
SH3TC2 100.00 0 ,
SIGMAR1 100.00 0 ,
SLC12A6 99.99 0 ,
SLC25A46 99.99 0 ,
SLC52A2 100.00 0 ,
SLC52A3 99.99 0 ,
SLC5A7 100.00 0 ,
SORD 94.99 0 ,
SOX10 99.95 0 ,
SPG11 99.99 0 ,
SPTAN1 99.99 0 ,
SPTLC1 99.98 0 ,
SPTLC2 99.95 0 ,
SPTLC3 100.00 0 ,
SYT2 99.95 0 ,
TBCE 99.80 0 ,
TBCK 100.00 0 ,
TDP1 99.99 0 ,
TECPR2 99.98 0 ,
TFG 99.98 0 ,
TRIM2 100.00 0 ,
TRPV4 100.00 0 ,
TTR 99.99 0 ,
TUBB3 99.99 0 ,
TWNK 99.99 0 ,
TYMP 99.91 0 ,
VAPB 100.00 0 ,
VCP 99.97 0 ,
VRK1 99.99 0 ,
VWA1 89.29 0 ,
WARS1 99.99 0 ,
WNK1 100.00 0 ,
YARS1 99.99 0 ,
ZFHX2 100.00 0 ,