SMN1
| Deellabo: | PGD DNA |
| Gen (Gen Code): | SMN1 |
| Aliases Gen: | SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMN2; SMNT; BCD541; T-BCD541; SMN1 |
| Gen ID (NCBI): | 6606 |
| OMIM Gen ID: | 600354 |
| Chromosomale locatie: | 5q13.2 |
| Genetische aandoening / Analyse: | Spinale spieratrofie (SMA) |
| OMIM aandoening ID: | 253300 253400 253550 |
| Overerving: | AR |
| Opmerking 1: | For this indication, one of the existing tests can be used for most couples. |
| Aliases aandoening: | SPINAL MUSCULAR ATROPHY, SMA SMA I SMA II SMA III TYPE I; SMA1 TYPE II; SMA2 TYPE III; SMA3 WERDNIG-HOFFMANN DISEASE KUGELBERG-WELANDER SYNDROME; KWS |