Table 1.
Sequence capture performance results for the 51 neuropathy genes included in the panel.
| Gene | GenBank accession and version number | Neuropathy phenotype | Average coverage | % Bases ≥ 2x coverage | % Bases ≥ 30x coverage |
|---|---|---|---|---|---|
| AARS | NM_001605.2 | CMT2 | 642 | 100.0 | 100.0 |
| ARHGEF10 | NM_014629.2 | Slow NCV | 620 | 100.0 | 97.7 |
| ATP7A | NM_000052.6 | dHMN | 295 | 100.0 | 94.4 |
| BSCL2 | NM_001122955.3 | dHMN | 845 | 100.0 | 100.0 |
| CTDP1 | NM_004715.4 | CCFDN | 488 | 100.0 | 87.7 |
| DCTN1 | NM_001135041.2 | dHMN | 972 | 100.0 | 99.8 |
| DNM2 | NM_001005361.2 | CMT2 and ICMT | 449 | 100.0 | 96.6 |
| DYNC1H1 | NM_001376.4 | CMT2 | 662 | 100.0 | 99.3 |
| EGR2 | NM_000399.3 | CMT1, DSN, and CMT4 | 1328 | 100.0 | 100.0 |
| FAM134B | NM_001034850.2 | HSAN | 296 | 100.0 | 88.5 |
| FGD4 | NM_139241.2 | CMT4 | 410 | 100.0 | 100.0 |
| FIG4 | NM_014845.5 | CMT4 | 480 | 100.0 | 100.0 |
| GAN | NM_022041.3 | GAN | 472 | 100.0 | 93.1 |
| GARS | NM_002047.2 | CMT2, dHMN | 427 | 100.0 | 92.9 |
| GDAP1 | NM_001040875.2 | CMT2, CMT4, and ICMT | 591 | 100.0 | 100.0 |
| GJB1 | NM_000166.5 | CMTX | 513 | 100.0 | 98.0 |
| HK1 | NM_033500.2 | CMT4 | 654 | 100.0 | 95.9 |
| HSPB1 | NM_001540.3 | CMT2 and dHMN | 429 | 100.0 | 80.4 |
| HSPB3 | NM_006308.2 | dHMN | 535 | 100.0 | 100.0 |
| HSPB8 | NM_014365.2 | CMT2 and dHMN | 536 | 100.0 | 96.9 |
| IGHMBP2 | NM_002180.2 | dHMN | 540 | 100.0 | 99.2 |
| IKBKAP | NM_003640.3 | HSAN | 488 | 100.0 | 99.8 |
| KIF1B | NM_015074.3 | CMT2 | 579 | 99.9 | 98.9 |
| LITAF | NM_001136472.1 | CMT1 | 454 | 100.0 | 90.0 |
| LMNA | NM_170708.3 | CMT2 | 533 | 100.0 | 93.8 |
| MED25 | NM_030973.3 | CMT2 | 476 | 100.0 | 84.4 |
| MFN2 | NM_001127660.1 | CMT2 | 602 | 100.0 | 99.3 |
| MPZ | NM_000530.6 | CMT1, CMT2, ICMT, and DSN | 417 | 100.0 | 82.2 |
| MTMR2 | NM_016156.5 | CMT4 | 338 | 100.0 | 97.5 |
| NDRG1 | NM_001135242.1 | CMT4 | 501 | 100.0 | 97.2 |
| NEFL | NM_006158.4 | CMT1 and CMT2 | 439 | 100.0 | 98.5 |
| NGF | NM_002506.2 | HSAN | 475 | 100.0 | 87.8 |
| NTRK1 | NM_001012331.1 | HSAN | 528 | 100.0 | 85.8 |
| PLEKHG5 | NM_001042664.1 | ICMT and dHMN | 463 | 99.5 | 95.2 |
| PMP22 | NM_153322.2 | CMT1, DSN, and HNPP | 597 | 100.0 | 100.0 |
| POLG | NM_001126131.1 | CMT associated [21, 22] | 485 | 100.0 | 95.5 |
| PRPS1 | NM_002764.3 | CMTX | 373 | 100.0 | 99.0 |
| PRX | NM_181882.2 | CMT4 and DSN | 966 | 100.0 | 100.0 |
| RAB7 | NM_004637.5 | CMT2 | 486 | 100.0 | 98.4 |
| REEP1 | NM_001164731.1 | dHMN | 476 | 100.0 | 95.5 |
| SBF2 | NM_030962.3 | CMT4 | 443 | 100.0 | 97.4 |
| SEPT9 | NM_001113493.1 | HNA | 449 | 100.0 | 86.3 |
| SETX | NM_015046.5 | dHMN | 566 | 100.0 | 99.4 |
| SH3TC2 | NM_024577.3 | CMT4 | 506 | 100.0 | 100.0 |
| SLC12A6 | NM_001042497.1 | ACCPN | 760 | 100.0 | 99.3 |
| SOD1 | NM_000454.4 | CMT associated [19] | 485 | 100.0 | 100.0 |
| SOX10 | NM_006941.3 | PCWH | 311 | 98.8 | 77.5 |
| SPTLC1 | NM_001281303.1 | HSAN | 449 | 100.0 | 95.7 |
| TRPV4 | NM_001177428.1 | CMT2 and dHMN | 454 | 100.0 | 100.0 |
| WNK1 | NM_014823.2 | HSAN | 883 | 100.0 | 99.1 |
| YARS | NM_003680.3 | ICMT | 475 | 100.0 | 95.0 |
ACCPN = agenesis of the corpus callosum with peripheral neuropathy; CCFDN = cataract, congenital, with facial dysmorphism and neuropathy; CMT1 = demyelinating Charcot-Marie-Tooth disease with autosomal dominant inheritance; CMT2 = axonal Charcot-Marie-Tooth disease; CMT4 = demyelinating Charcot-Marie-Tooth disease with autosomal recessive inheritance; CMTX = Charcot-Marie-Tooth disease, X-linked inheritance; dHMN = distal hereditary motor neuronopathy; DSN = Dejerine-Sottas neuropathy; GAN = giant axonal neuropathy; HNPP = hereditary neuropathy with liability to pressure palsies; HSAN = hereditary sensory and autonomic neuropathies; ICMT = intermediate Charcot-Marie-Tooth disease; NCV = nerve conduction velocity; PCWH = peripheral demyelinating neuropathy, central dysmyelination.