| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.135 | ASCC1 | Bryony Thompson Marked gene: ASCC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.135 | ASCC1 | Bryony Thompson Gene: ascc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.135 | ASCC1 | Bryony Thompson Classified gene: ASCC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.135 | ASCC1 | Bryony Thompson Gene: ascc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | ASCC1 |
Sangavi Sivagnanasundram gene: ASCC1 was added gene: ASCC1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC1 were set to (PMID: 30327447; 35838082; 26924529) Phenotypes for gene: ASCC1 were set to Congenital Myopathy - MONDO:0019952 Review for gene: ASCC1 was set to GREEN Added comment: PMID: 30327447; 35838082 >3 individuals from unrelated families with clinical features consistent with congenital myopathy PMID: 35838082 Individual with congenital myopathy phenotype and a mutation in ASCC1. PMID: 26924529 Animal study showed the effect on ASCC1 protein function in muscle cells. Sources: Other |
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