| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v1.54 | STIM1 | Bryony Thompson Marked gene: STIM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.54 | STIM1 | Bryony Thompson Gene: stim1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.54 | STIM1 | Bryony Thompson Classified gene: STIM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.54 | STIM1 | Bryony Thompson Gene: stim1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.53 | STIM1 |
Bryony Thompson gene: STIM1 was added gene: STIM1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STIM1 were set to 38982518; 31448844 Phenotypes for gene: STIM1 were set to tubular aggregate myopathy MONDO:0008051 Mode of pathogenicity for gene: STIM1 was set to Other Review for gene: STIM1 was set to GREEN gene: STIM1 was marked as current diagnostic Added comment: >4 cases with congenital myopathy. Gain of function is the mechanism of disease. Sources: Literature |
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