Table 5.
Detected variants in other NDD genes.
| Pat-ID | Gender | Subtype | AAO (years) | Gene | chr. position | cDNA | Protein | Zygosity | MAF_EA (%) | dbSNP | Differential diagnoses (OMIM) | MT | PolyPhen2 | SIFT | NG2 | NN |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #5 | m | sALS | 58 | AR | chrX:66941751 | c.2395C > G | p.Q799E | hemi | 0.22 | rs137852591 | #300068, #312300, #300633, #313200 | Disease causing | - | Damaging | - | - |
| #9 | m | sALS | 66 | GBA | chr1:155209737 | c.247C > T | p.R83C | het | 0.01 | rs1141812 | #608013, #230800, #230900, #231000, #231005, #127750, #168600 | Polymorphism | Probably damaging | Damaging | - | - |
| #18 | m | sALS | 42 | PLP1 | chrX:103043442 | c.696+3G > A | p.? | hemi | - | - | #312920, #312080 | Disease causing | - | - | No effect | No effect |
| #24∗ | m | sALS | 70 | GARS | chr7:30665930 | c.1694T > A | p.L565Q | het | 0.02 | rs200726600 | #601472, #600794 | Disease causing | Benign | Damaging | - | - |
| #385 | f | sALS | 69 | GARS | chr7:30655580 | c.1100A > G | p.N367S | het | 0.04 | rs192443850 | Disease causing | Benign | Tolerated | - | - | |
| SPG7 | chr16:89592755 | c.637C > T | p.R213∗ | het | - | - | #607259 | Disease causing | - | - | - | - | ||||
| #780 | m | fALS | 56 | DYNC1H1 | chr14:102452918 | c.2356C > T | p.R786C | het | - | - | #614228, #614563, #158600 | Disease causing | Probably damaging | Damaging | - | - |
| #34 | f | ALS-FTD | 54 | DYNC1H1 | chr14:102508609 | c.12259G > A | p.A4087T | het | - | - | Disease causing | Probably damaging | Damaging | - | - | |
| #38 | f | ALS-FTD | 70 | GBE1 | chr3:81640290 | c.1134T > G | p.S378R | het | 0.04 | rs36099971 | #263570, #232500 | Disease causing | Benign | Tolerated | - | - |
| GBE1 | chr3:81810551 | c.118C > A | p.P40T | het | 0.17 | rs35196441 | Disease causing | Benign | Damaging | - | - | |||||
| #41 | m | sALS | 42 | SPG7 | chr16:89623341 | c.2228T > C | p.I743T | het | - | - | #607259 | Disease causing | Probably damaging | Damaging | - | - |
| #19 | m | sALS | 54 | SPG7 | chr16:89598369 | c.1045G > A | p.G349S | het | 0.17 | rs141659620 | Disease causing | Probably damaging | Damaging | - | - | |
| SYNE1 | chr6:152712567 | c.7870C > T | p.R2624W | het | - | - | #612998, #610743 | Polymorphism | Probably damaging | Damaging | - | - | ||||
| #28 | f | sALS | 67 | SPG7 | chr16:89598369 | c.1045G > A | p.G349S | het | 0.17 | rs141659620 | #607259 | Disease causing | Probably damaging | Damaging | - | - |
| #32 | m | sALS | 46 | TAF1 | chrX:70680560 | c.5366A > G | p.N1789S | hemi | 0.03 | rs147517498 | #314250 | Disease causing | Benign | Damaging | - | - |
*Patient carries a pathogenic C9orf72 repeat expansion.