| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.99 | LYST | Bryony Thompson Marked gene: LYST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.99 | LYST | Bryony Thompson Gene: lyst has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.99 | LYST | Bryony Thompson Classified gene: LYST as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.99 | LYST | Bryony Thompson Gene: lyst has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.98 | LYST |
Bryony Thompson gene: LYST was added gene: LYST was added to Ataxia. Sources: Literature Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYST were set to 34483340; 28193763; 26944273; 26307451 Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MONDO:0008963 Review for gene: LYST was set to GREEN Added comment: Multiple studies report that biallelic loss‑of‑function variants in LYST cause Chediak‑Higashi syndrome, a Mendelian lysosomal trafficking disorder that frequently includes cerebellar ataxia. PMID 34483340 describes four families (two independent) with spastic paraplegia, cerebellar ataxia and intellectual disability; PMID 26307451 reports a single adult‑onset family of three siblings with ataxia, parkinsonism and spastic paraparesis; PMID 26944273 (and the overlapping PMID 28193763 cohort) document nine patients from seven families (six independent) with childhood‑onset cerebellar ataxia and progressive neurodegeneration. Across the literature 12 families (9 independent) harbour qualifying biallelic truncating or nonsense LYST variants. Sources: Literature |
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