Table 1.
List of genes implicated in ALS pathogenesis, according to OMIM.
| Gene/Locus | Location | Phenotype | Inheritance | ExoCarta | References∗ |
|---|---|---|---|---|---|
| TARDBP | 1p36.22 | ALS/FTD | AD | Y | Ding et al., 2015; Feiler et al., 2015; Iguchi et al., 2016 |
| ALS2 | 2q33.1 | ALS, juvenile | AR | N | |
| ERBB4 | 2q34 | ALS | AD | Y | |
| TUBA4A | 2q35 | ALS/FTD | AD | Y | |
| CHMP2B | 3p11.2 | ALS | AD | Y | |
| MATR3 | 5q31.2 | ALS | AD | Y | |
| SQSTM1 | 5q35.3 | ALS/FTD | AD | Y | |
| FIG4 | 6q21 | ALS | AD | N | |
| C9orf72 | 9p21.2 | ALS/FTD | AD | N (DPR) | Westergard et al., 2016 |
| SIGMAR1 | 9p13.3 | ALS, juvenile | AR | N | |
| VCP | 9p13.3 | ALS/FTD | Y | ||
| SETX | 9q34.13 | ALS, juvenile | AD | N | |
| OPTN | 10p13 | ALS | Y | ||
| ANXA11 | 10q22.3 | ALS | AD | Y | |
| HNRNPA1 | 12q13.13 | ALS | AD | Y | |
| TBK1 | 12q14.2 | ALS/FTD | AD | Y | |
| ANG | 14q11.2 | ALS | Y | ||
| SPG11 | 15q21.1 | ALS, juvenile | AR | Y | |
| FUS | 16p11.2 | ALS/FTD | Y | Kamelgarn et al., 2016 | |
| PFN1 | 17p13.2 | ALS | Y | ||
| ALS3 | 18q21 | ALS | AD | N | |
| ALS7 | 20p13 | ALS | N | ||
| VAPB | 20q13.32 | ALS | AD | Y | |
| SOD1 | 21q22.11 | ALS | AD, AR | Y | Gomes et al., 2007; Basso et al., 2013; Grad et al., 2014 |
| CHCHD10 | 22q11.23 | ALS/FTD | AD | N | |
| UBQLN2 | Xp11.21 | ALS/FTD | XLD | Y |
Y is the abbreviation for YES, N for NO. ∗References are related to EV protein cargos described in the paragraph “ALS-associated proteins as EV cargo and the prion-like propagation of protein misfolding.” AD, autosomal dominant; AR, autosomal recessive; XLD, X-linked disease.