| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v0.170 | SPTLC1 | Bryony Thompson Marked gene: SPTLC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.170 | SPTLC1 | Bryony Thompson Gene: sptlc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.170 | SPTLC1 | Bryony Thompson Classified gene: SPTLC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.170 | SPTLC1 | Bryony Thompson Gene: sptlc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.169 | SPTLC1 |
Bryony Thompson gene: SPTLC1 was added gene: SPTLC1 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTLC1 were set to 34059824; 35900868; 34459874 Phenotypes for gene: SPTLC1 were set to juvenile amyotrophic lateral sclerosis MONDO:0017593 Mode of pathogenicity for gene: SPTLC1 was set to Other Review for gene: SPTLC1 was set to GREEN Added comment: At least 10 unrelated probands/families reported with typically juvenile-onset ALS with missense or in-frame indels. Supporting in vitro functional assays demonstrate the mechanism of disease results in unregulated SPT activity and elevated levels of canonical SPT products, in contrast to the mechanism of disease for SPTLC1 variants that cause hereditary sensory and autonomic neuropathy (shift SPT amino acid usage from serine to alanine, resulting in elevated levels of deoxysphingolipids). Sources: Literature |
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