| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Myasthenia v1.12 | UNC50 | Bryony Thompson Marked gene: UNC50 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.12 | UNC50 | Bryony Thompson Gene: unc50 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.12 | UNC50 | Bryony Thompson Classified gene: UNC50 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.12 | UNC50 | Bryony Thompson Gene: unc50 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.11 | UNC50 |
Bryony Thompson gene: UNC50 was added gene: UNC50 was added to Congenital Myasthenia. Sources: Literature Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC50 were set to 33820833; 29016857; 40219868 Phenotypes for gene: UNC50 were set to arthrogryposis multiplex congenita MONDO:0015168; congenital myasthenic syndrome MONDO:0018940 Review for gene: UNC50 was set to AMBER Added comment: 3 probands reported, 2 with AMC and 1 with CMS. PMID: 33820833 & PMID: 29016857 report the same French AMC proband with a homozygous frameshift variant (c.750_751del:p.Cys251Phefs*4). In the methods section PMID: 33820833 states that morphological analyses of skeletal muscle, neuromuscular junction or peripheral nerve in patient samples, and functional validation of newly identified genes were reported in separate reports, including PMID: 29016857. Supporting C. elegans model with loss of AChR expression. PMID: 40219868 - the same homozygous splice variant c.644-13_644-9del was reported in 2 unrelated Indian probands, one with AMC and one with a congenital myasthenic syndrome. Both families had affected siblings with consistent phenotypes, which were not tested for the variant. Sources: Literature |
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