| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genomic screening in children: BabyScreen+ v0.58 | SPTLC1 |
Lilian Rudd gene: SPTLC1 was added gene: SPTLC1 was added to Genomic screening in children: BabyScreen+. Sources: Expert list Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTLC1 were set to PMID: 34059824 Phenotypes for gene: SPTLC1 were set to Amyotrophic lateral sclerosis 27, juvenile MIM#620285 Review for gene: SPTLC1 was set to GREEN Added comment: Specific variants (exon 2) cause the childhood onset. Treatment serine Non-genetic confirmatory test: Sphingolipid levels Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||