Neuropathy (148 genes) - IPG
Full name: |
Neuropathy (148 genes) - IPG
|
Type of panel: | |
Version number: |
V4
|
Laboratory: | |
Created: |
04 Jul 2019 - 10:40
|
Changed: |
04 Dec 2023 - 10:38
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
AAAS | 100.00 | 1 | NM_015665.6 |
AARS1 | 100.00 | 1 | NM_001605.3 |
ABHD12 | 100.00 | 1 | NM_001042472.3 |
AIFM1 | 100.00 | 1 | NM_004208.4 |
ALS2 | 100.00 | 1 | NM_020919.4 |
ANG | 100.00 | 1 | NM_001145.4 |
ANXA11 | 100.00 | 1 | NM_145868.2 |
APTX | 100.00 | 1 | NM_001195248.2 |
ARHGEF10 | 100.00 | 1 | NM_014629.4 |
ATL1 | 100.00 | 1 | NM_015915.5 |
ATL3 | 100.00 | 1 | NM_015459.5 |
ATP1A1 | 100.00 | 1 | NM_000701.8 |
ATP7A | 100.00 | 1 | NM_000052.7 |
BICD2 | 100.00 | 1 | NM_001003800.2 |
BSCL2 | 100.00 | 1 | NM_001122955.3 |
CNTNAP1 | 100.00 | 1 | NM_003632.3 |
COA8 | 100.00 | 1 | NM_001370595.1 |
COL4A1 | 100.00 | 1 | NM_001845.6 |
COX6A1 | 100.00 | 1 | NM_004373.4 |
CTDP1 | 100.00 | 1 | NM_004715.5 |
DCAF8 | 100.00 | 1 | NM_015726.4 |
DCTN1 | 100.00 | 1 | NM_004082.4 |
DCX | 100.00 | 1 | NM_001195553.2 |
DHTKD1 | 100.00 | 1 | NM_018706.7 |
DNAJB2 | 100.00 | 1 | NM_006736.6 |
DNM2 | 100.00 | 1 | NM_001005361.3 |
DNMT1 | 99.93 | 1 | NM_001130823.3 |
DST | 100.00 | 1 | NM_001144770.2 |
DYNC1H1 | 100.00 | 1 | NM_001376.5 |
EGR2 | 100.00 | 1 | NM_000399.5 |
ELP1 | 100.00 | 1 | NM_003640.5 |
ERBB4 | 100.00 | 1 | NM_005235.3 |
FBLN5 | 100.00 | 1 | NM_006329.3 |
FBXO38 | 100.00 | 1 | NM_205836.3 |
FGD4 | 100.00 | 1 | NM_001304480.1 |
FIG4 | 100.00 | 1 | NM_014845.6 |
FUS | 100.00 | 1 | NM_004960.4 |
GAN | 100.00 | 1 | NM_022041.3 |
GARS1 | 100.00 | 1 | NM_002047.4 |
GBF1 | 100.00 | 1 | NM_004193.3 |
GCH1 | 100.00 | 1 | NM_000161.3 |
GDAP1 | 100.00 | 1 | NM_018972.4 |
GJB1 | 100.00 | 1 | NM_000166.6 |
GJB3 | 100.00 | 1 | NM_024009.3 |
GLA | 100.00 | 1 | NM_000169.3 |
GNB4 | 100.00 | 1 | NM_021629.4 |
HARS1 | 100.00 | 1 | NM_002109.6 |
HINT1 | 100.00 | 1 | NM_005340.7 |
HK1 | 100.00 | 1 | NM_001358263.1 |
HOXD10 | 100.00 | 1 | NM_002148.4 |
HSPB1 | 100.00 | 1 | NM_001540.5 |
HSPB3 | 100.00 | 1 | NM_006308.3 |
HSPB8 | 100.00 | 1 | NM_014365.3 |
HTRA1 | 100.00 | 1 | NM_002775.5 |
IFRD1 | 100.00 | 1 | NM_001007245.2 |
IGHMBP2 | 100.00 | 1 | NM_002180.3 |
INF2 | 99.00 | 1 | NM_022489.4 |
KARS1 | 100.00 | 1 | NM_001130089.1 |
KIF1A | 100.00 | 1 | NM_001244008.1 |
KIF1B | 100.00 | 1 | NM_015074.3 |
KIF5A | 100.00 | 1 | NM_004984.4 |
KLC2 | 100.00 | 1 | NM_001134775.1 |
LITAF | 100.00 | 1 | NM_001136472.1 |
LMNA | 100.00 | 1 | NM_170707.4 |
LRSAM1 | 100.00 | 1 | NM_001005373.3 |
MARS1 | 100.00 | 1 | NM_004990.4 |
MATR3 | 100.00 | 1 | NM_018834.6 |
MCM3AP | 100.00 | 1 | NM_003906.5 |
MED25 | 100.00 | 1 | NM_030973.3 |
MFN2 | 100.00 | 1 | NM_014874.4 |
MME | 100.00 | 1 | NM_007289.4 |
MORC2 | 100.00 | 1 | NM_001303256.3 |
MPV17 | 100.00 | 1 | NM_002437.5 |
MPZ | 100.00 | 1 | NM_000530.8 |
MTMR2 | 100.00 | 1 | NM_016156.6 |
MTRFR | 100.00 | 1 | NM_152269.5 |
MYH14 | 100.00 | 1 | NM_001145809.2 |
NAGLU | 100.00 | 1 | NM_000263.4 |
NDRG1 | 100.00 | 1 | NM_006096.4 |
NEFH | 100.00 | 1 | NM_021076.4 |
NEFL | 100.00 | 1 | NM_006158.5 |
NEK1 | 100.00 | 1 | NM_001199397.3 |
NFASC | 100.00 | 1 | NM_001005388.2 |
NGF | 100.00 | 1 | NM_002506.3 |
NTRK1 | 100.00 | 1 | NM_002529.3 |
OPTN | 100.00 | 1 | NM_001008212.2 |
PDK3 | 100.00 | 1 | NM_001142386.3 |
PDXK | 100.00 | 1 | NM_003681.5 |
PEX1 | 100.00 | 1 | NM_000466.3 |
PEX7 | 100.00 | 1 | NM_000288.4 |
PFN1 | 100.00 | 1 | NM_005022.4 |
PHYH | 100.00 | 1 | NM_006214.4 |
PLEKHG5 | 100.00 | 1 | NM_001265592.1 |
PMP2 | 100.00 | 1 | NM_002677.5 |
PMP22 | 100.00 | 1 | NM_000304.4 |
PNKP | 100.00 | 1 | NM_007254.4 |
POLG | 100.00 | 1 | NM_001126131.2 |
PRDM12 | 98.36 | 1 | NM_021619.3 |
PRPH | 100.00 | 1 | NM_006262.4 |
PRPS1 | 100.00 | 1 | NM_002764.4 |
PRX | 100.00 | 1 | NM_181882.3 |
PTRH2 | 100.00 | 1 | NM_016077.5 |
RAB7A | 100.00 | 1 | NM_004637.6 |
REEP1 | 100.00 | 1 | NM_001371279.1 |
RETREG1 | 100.00 | 1 | NM_001034850.2 |
SBF1 | 100.00 | 1 | NM_002972.4 |
SBF2 | 100.00 | 1 | NM_030962.3 |
SCN10A | 100.00 | 1 | NM_006514.3 |
SCN11A | 100.00 | 1 | NM_001349253.2 |
SCN9A | 100.00 | 1 | NM_001365536.1 |
SCO2 | 100.00 | 1 | NM_005138.3 |
SEPTIN9 | 100.00 | 1 | NM_001113491.2 |
SETX | 100.00 | 1 | NM_015046.7 |
SGPL1 | 100.00 | 1 | NM_003901.4 |
SH3TC2 | 100.00 | 1 | NM_024577.4 |
SIGMAR1 | 100.00 | 1 | NM_005866.4 |
SLC12A6 | 100.00 | 1 | NM_001365088.1 |
SLC25A46 | 100.00 | 1 | NM_138773.4 |
SLC5A7 | 100.00 | 1 | NM_021815.5 |
SMN1 | 6.96 | 1 | NM_000344.3 |
SOD1 | 100.00 | 1 | NM_000454.5 |
SORD | 94.98 | 1 | NM_003104.6 |
SOX10 | 100.00 | 1 | NM_006941.4 |
SPG11 | 100.00 | 1 | NM_025137.4 |
SPTLC1 | 100.00 | 1 | NM_006415.4 |
SPTLC2 | 100.00 | 1 | NM_004863.3 |
SQSTM1 | 100.00 | 1 | NM_003900.5 |
SURF1 | 100.00 | 1 | NM_003172.4 |
SYT2 | 100.00 | 1 | NM_177402.5 |
TARDBP | 100.00 | 1 | NM_007375.4 |
TDP1 | 100.00 | 1 | NM_018319.4 |
TECPR2 | 100.00 | 1 | NM_014844.5 |
TFG | 100.00 | 1 | NM_006070.6 |
TIA1 | 100.00 | 1 | NM_022173.4 |
TRIM2 | 100.00 | 1 | NM_015271.5 |
TRPA1 | 100.00 | 1 | NM_007332.3 |
TRPV4 | 100.00 | 1 | NM_021625.5 |
TTR | 100.00 | 1 | NM_000371.4 |
TUBA1A | 100.00 | 1 | NM_006009.4 |
TUBA4A | 100.00 | 1 | NM_006000.3 |
TUBB3 | 100.00 | 1 | NM_006086.4 |
TYMP | 100.00 | 1 | NM_001257989.1 |
UBQLN2 | 100.00 | 1 | NM_013444.3 |
VAPB | 100.00 | 1 | NM_004738.5 |
VCP | 100.00 | 1 | NM_007126.5 |
WARS1 | 100.00 | 1 | NM_004184.4 |
WNK1 | 100.00 | 1 | NM_018979.4 |
YARS1 | 100.00 | 1 | NM_003680.3 |