Neuropathy (148 genes) - IPG

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Full name:
Neuropathy (148 genes) - IPG
Type of panel:
Custom panel
Version number:
V4
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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