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Table 1 Genes included in IPN NGS panel, with associated phenotype and inheritance pattern

From: Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

GENE OMIM Locus CMT1 CMT2 HMN HS(A)N OMIM Inheritance
AARS 601065 16q22   CMT 2N    613287 AD
ARHGEF10 608136 8p23 Slowed NCV; hypomyelination 608236 AD
ATL1 606439 14q11-q21     HSN 1D 613708 AD
ATP7A 300011 Xq12-q13    dSMAX3   300489 XL
BAG3 603883 10q26.11 Myopathy; myofibrillar, BAG-3 related 612954 AD
BSCL2 606158 11q12.3    HMN 5   600794 AD
CCT5 610150 5p15.2     HSN with spastic paraplegia 256840 AR
CTDP1 604927 18q23 CCFDN: Congenital cataracts, facial dysmorphism, neuropathy 604168 AR
DCTN1 601143 2p13.1    HMN 7B   607641 AD
DNM2 602378 19p13.2   CMT DI B    606482 AD
CMT 2 M
DYNC1H1 600112 14q32.31   CMT 2O SMA-LED   614228/158600 AD
EGR2 129010 10q21.1-q22.1 CMT 1D     607678 AD
CMT 4E CHN 605253 AD
DSS 145900 AR
FAM134B 613114 5p15.1     HSAN 2B 613115 AR
FGD4 611104 12p11.21 CMT 4H     609311 AR
FIG4 609390 6q21 CMT 4J     611228 AR
GAN 605379 16q23.2 Giant Axonal Neuropathy 1 256850 AR
GARS 600287 21q22.11   CMT 2D HMN 5   601472/600794 AD
GDAP1 606598 8q21 CMTA RI     608340 AR
CMT 4A   214400 AR
  CMT 2H 607706 AR
  CMT 2K 607831 AD
GJB1 304040 Xq13.1 CMT X1    302800 XL
HOXD10 142984 2q31.1 HMSN with Congenital vertical talus 192950 AD
HSPB1 602195 7q11   CMT 2F HMN 2B   606595/608634 AD
HSPB3 604624 5q11.2    HMN 2C   613376 AD
HSPB8 608014 12q24   CMT 2L HMN 2A   608673/158590 AD
IGHMBP2 600502 11q13.3    HMN 6   604320 AR
IKBKAP 603722 9q31.3     HSAN 3 223900 AR
KARS 601421 16q23.1 CMT RI B     613641 AR
KIF1B 605995 1p36.22   CMT 2A1    118210 AD
LITAF 603795 16p13.3-p12 CMT 1C     601098 AD
LMNA 150330 1q22   CMT 2B1    605588 AR
LRSAM1 610933 9q33.3   CMT 2P    614436 AD/AR
MED25 610197 19q33.13   CMT 2B2    605589 AR
MFN2 608507 1p35-36   CMT 2A2    609260 AD
HMSN6    601152
MPZ 159440 1q22 CMT 1B     118220 AD
CHN     605253
CMT DI D     607791
  CMT 2I    607677
  CMT 2J    607736
MTMR2 603557 11q21 CMT 4B1     601382 AR
NDRG1 605262 8q24.22 CMT 4D     601455 AR
NEFL 162280 8p21 CMT 1F CMT 2E    607734/607684 AD
NGFB 162030 1q13.2     HSAN 5, absence of pain 608654 AR
NTRK1 191315 1q23.1     HSAN 4; anhidrosis, insensitivity to pain 256800 AR
PLEKHG5 611101 1p36.31 CMT RIC   dSMA 4   615376/611067 AR
PMP22 601097 17p11.2 CMT 1A     118220 AD
HNPP     162500 AD
CMT 1E     118300 AD
DSS     145900 AR
PRPS1 311850 Xq22.3 CMT X5    311070 XL D/R
PRX 605725 19q13.1-q13.2 CMT 4F/DSS     145900 AR
RAB7A 602298 3q21.3   CMT 2B   HSN 600882 AD
REEP1 609139 2p11.2    HMN5B   614751 AD
SBF2 607697 11p15.4 CMT 4B2     604563 AR
SCN9A 603415 2q24.3 Absence of pain 243000 AR
Small fibre neuropathy 133020 AD
SEPT9 604061 17q25.2-q25.3 Hereditary neuralgic amyotrophy, HNS, HNA & dysmorphic features 162100 AD
SH3TC2 608206 5q32 CMT 4C     601596 AR
SLC12A6 604878 15q14 PN with agenesis of the corpus callosum 218000 AR
SOX10 602229 22q13.1 PCWH syndrome 609136 AD
SPTLC1 605712 9q22.1-q22.3     HSAN 1 162400 AD
SPTLC2 605713 14q24.3     HSAN 1C 613640 AD
TDP1 607198 14q32.11 Spinocerebellar ataxia, with axonal neuropathy 607250 AR
TRPV4 605427 12q24.1   CMT 2C    606071 AD
WNK1 605232 12p13.33     HSAN 2A 201300 AR
YARS 603623 1p13.1 CMT DI C     608323 AD