Table 1.
Target genes included in NGS Panel.
| Gene | Ref sequence | MIM |
|---|---|---|
| AARS | NM_001605.2 | 601065 |
| ALT1 | NM_005309 | 138200 |
| ARHGEF10 | NM_001308152 | 608236 |
| ATP7A | NM_000052.6 | 300011 |
| BSCL2 | NM_001122955.3 | 606158 |
| CCT5 | NM_012073.5 | 610150 |
| DMN2 | NM_001005360.2 | 602378 |
| DYNC1H1 | NM_001376.4 | 600112 |
| EGR2 | NM_000399.3 | 129010 |
| FGD4 | NM_139241.2 | 611104 |
| FIUREG4 | NM_014845.5 | 609390 |
| GARS | NM_002047.2 | 600287 |
| GDAP1 | NM_018972.2 | 606598 |
| GJ B1 | NM_000166.5 | 304040 |
| HSPB1 | NM_001540.3 | 602195 |
| HSPB8 | NM_014365.2 | 608014 |
| IFRD1 | NM_003640.5 | 603502 |
| IKBKAP | NM_001197080.1 | 603722 |
| KIF1A | NM_001244008.2 | 601255 |
| KIF1B | NM_015074.3 | 605995 |
| KIF5A | NM_004984.2 | 602821 |
| LITAF | NM_004862.3 | 603795 |
| LMNA | NM_170707.2 | 150330 |
| LRSAM1 | NM_138361.5 | 610933 |
| MED25 | NM_030973.3 | 610197 |
| MFN2 | NM_014874.3 | 608507 |
| MPZ | NM_000530.6 | 159440 |
| MTMR2 | NM_016156.5 | 603557 |
| NDRG1 | NM_001135242.1 | 605262 |
| NEFL | NM_006158 | 162280 |
| PMP22 | NM_000304.2 | 601097 |
| POLG | NM_001126131 | 174763 |
| PRPS1 | NM_002764.3 | 311850 |
| PRX | NM_181882 | 605725 |
| RAB7A | NM_004637.5 | 602298 |
| REEP1 | NM_004637 | 602298 |
| SBF2 | NM_030962.3 | 607697 |
| SEPT9 | NM_001113491 | 604061 |
| SETX | NM_00135152 | 608465 |
| SH3TC2 | NM_024577.3 | 608206 |
| SLC12A6 | NM_00104497.2 | 604878 |
| SMAD1 | NM_005900.3 | 601595 |
| SOD1 | NM_00045 | 147450 |
| SP110 | NM_004509 | 604457 |
| TDP1 | NM_001008744.2 | 607198 |
| SURF1 | NNM_003172.4 | 185620 |
| TGFB1 | NM_000660 | 190180 |
| TRPV4 | NM_021625.4 | 605427 |
| TTR | NM_0209556 | 176300 |
For each gene is reported: (i) name (GeneCards: The Human Gene Database), (ii) Ref sequence (NCBI Reference Sequence Database), and (iii) MIM (Gene/Locus MIM number).