Table 1.
Novel genetic variants identified in the genetic peripheral neuropathy (neuropathy) cohort
| Disease category | Gene symbol | Variant | ACMG classification |
|---|---|---|---|
| Neuropathy | SBF2 | ENST00000256190.13:c.2100+1G>A | Pathogenic |
| Neuropathy | NEFL | ENST00000610854.2:c.796G>T | Pathogenic |
| Neuropathy | HSPB1 | ENST00000248553.7:c.504del | LP |
| Neuropathy | SH3TC2 | ENST00000504517.5:c.321G>A | LP |
| Neuropathy | IGHMBP2 | ENST00000255078.8:c.449+2T>A | LP |
| Neuropathy | GAN | ENST00000648994.2:c.280C>T | LP |
| Neuropathy | MPZ | ENST00000463290.5:c.620_623dup | LP |
| Neuropathy | PMP22 | ENST00000312280.9:c.448_449delGGinsTT | LP |
| Neuropathy | NEFL | ENST00000610854.2:c.65_68delCCCGinsT | LP |
| Neuropathy | VRK1 | ENST00000216639.8:c.1012A>T | LP |
| Neuropathy | MPV17 | ENST00000233545.6:c.176_181del | LP |
| Neuropathy | PRX | ENST00000324001.8:c.1560_1562del | LP |
| Neuropathy | PMP2 | ENST00000256103.3:c.19G>C | LP |
| Neuropathy | MPZ | ENST00000463290.5:c.212A>G | VUS |
| Neuropathy | MPZ | ENST00000672602.2:c.772C>G | VUS |
| Neuropathy | ATP7A | ENST00000341514.11:c.2083C>T | VUS |
| Neuropathy | SCN11A | ENST00000302328.9:c.1101G>T | VUS |
| Neuropathy | AIFM1 | ENST00000287295.8:c.512T>C | VUS |
| Neuropathy | ATL1 | ENST00000358385.12:c.1208G>C | VUS |
| Neuropathy | KIF1A | ENST00000648047.1:c.368A>G | VUS |
| Neuropathy | KMT2C | ENST00000262189.11:c.1013C>T | VUS |
| Neuropathy | MPZ | ENST00000672602.2:c.772C>G | VUS |
ACMG = American College of Medical Genetics; LP = likely pathogenic; VUS = variant of uncertain significance.