| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v2.25 | SYNE1 | Bryony Thompson Marked gene: SYNE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.25 | SYNE1 | Bryony Thompson Gene: syne1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.25 | SYNE1 | Bryony Thompson Classified gene: SYNE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.25 | SYNE1 | Bryony Thompson Gene: syne1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.24 | SYNE1 |
Bryony Thompson gene: SYNE1 was added gene: SYNE1 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNE1 were set to 41850837; 41322345; 40418414; 33223674; 27086870 Phenotypes for gene: SYNE1 were set to autosomal recessive ataxia, Beauce type, MONDO:0012549 Review for gene: SYNE1 was set to GREEN Added comment: PMID 27086870 reports biallelic SYNE1 variants causing cerebellar ataxia plus motor neuron disease; subsequent studies added further families – PMID 41322345 described 2 consanguineous families (7 patients) with early‑onset ALS phenotype, PMID 41850837 reported a single family (1 patient) with SCAR8 features, and PMID 33223674 described one Indian family (2 patients) with cerebellar ataxia and ALS‑like presentation. All pathogenic variants are loss‑of‑function, ultra‑rare or absent in gnomAD, and segregate with disease. Functional data show nonsense‑mediated decay, loss of SYNE1 protein by immunohistochemistry, and SYNE1 knockout mouse phenocopy, though rescue experiments are lacking. Sources: Literature |
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