Table 2.
Summary of identified gene variants and classes of pathogenicity.
| Gene | N. of Variants | Class 5 | Class 4 | Class 3 | Class 2 | Recurrent Variants | |
|---|---|---|---|---|---|---|---|
| ALS (AD) | ANG | 4 | 1 | 3 * | * 1 recurrent in 3 pts | ||
| CHCHD10 | 0 | ||||||
| CHMP2B | 1 | 1 | |||||
| ERBB4 | 4 | 2 | 2 * | * 1 recurrent in 2 pts | |||
| FIG4 | 4 | 1 | 1 | 2 | |||
| HNRNPA1 | 0 | ||||||
| MATR3 | 1 | 1 | |||||
| OPTN | 3 | 2 | 1 | ||||
| PFN1 | 0 | ||||||
| SETX | 21 | 1 | 6 | 14 * | * 1 recurrent in 7 pts * 1 recurrent in 5 pts |
||
| SQSTM1 | 6 | 2 | 1 | 3 * | * 1 recurrent in 3 pts | ||
| TUBA4A | 0 | ||||||
| VAPB | 3 | 3 * | * 1 recurrent in 3 pts | ||||
| VCP | 4 | 2 | 2 | ||||
| ALS (XLD) | UBQLN2 | 1 | 1 | ||||
| ALS (AR) | ALS2 | 4 | 1 | 3 | |||
| SIGMAR1 | 1 | 1 | |||||
| SPG11 | 7 | 3 | 4 | ||||
| HMN/HSP (AD) | BSCL2 | 0 | |||||
| GARS1 | 9 | 1 | 5 § | 3 * |
§ 1 recurrent in 3 pts * 1 recurrent in 3 pts |
||
| REEP1 | 0 | ||||||
| TRPV4 | 9 | 3 | 6 * | * 1 recurrent in 3 pts | |||
| SPAST | 1 | 1 | |||||
| SMA/HMN/HSP (AR) | ASAH1 | 3 | 1 | 2 | |||
| IGHMBP2 | 10 | 4 | 1 | 4 | 1 | ||
| PNPLA6 | 6 | 1 | 5 | ||||
| FTD (AD) | GRN | 8 | 4 | 4* | * 1 recurrent in 4 pts | ||
| MAPT | 2 | 2 | |||||
| Total | 112 | 11 | 8 | 49 | 44 | 10 recurrent variants (9 Class-2, 1 Class-3) |
Specific DNA and protein variants of Classes 3-4-5 are listed in Table 4; Table 5. Class-2 variants are listed in Supplementary Table S5. §: recurrent variants of class 3; *: recurrent variants of class 2.