| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v2.23 | SPTLC2 | Bryony Thompson Marked gene: SPTLC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.23 | SPTLC2 | Bryony Thompson Gene: sptlc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.23 | SPTLC2 | Bryony Thompson Classified gene: SPTLC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.23 | SPTLC2 | Bryony Thompson Gene: sptlc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.22 | SPTLC2 |
Bryony Thompson gene: SPTLC2 was added gene: SPTLC2 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTLC2 were set to 40849231; 38316966; 38041679; 38041684 Phenotypes for gene: SPTLC2 were set to amyotrophic lateral sclerosis, MONDO:0004976 Review for gene: SPTLC2 was set to GREEN Added comment: PMID 38316966 reports two families (one with three affected members carrying p.Ala71Val and one de novo p.Met68Arg) presenting with early‑onset ALS and frontotemporal dementia; PMID 38041684 describes two unrelated de novo p.Met68Arg families with juvenile ALS; PMID 38041679 identifies six independent de novo p.Glu260Lys families with childhood‑onset ALS; PMID 40849231 adds two de novo heterozygous missense families (p.Glu260Lys and a novel c.197T>G) with childhood‑onset ALS. All cases harbour heterozygous gain‑of‑function missense variants, show elevated sphingolipid synthesis, and follow autosomal‑dominant inheritance. Sources: Literature |
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