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| Muscular dystrophy and myopathy_Paediatric v0.143 | CACNA1S | Bryony Thompson Marked gene: CACNA1S as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.143 | CACNA1S | Bryony Thompson Gene: cacna1s has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.143 | CACNA1S | Bryony Thompson Classified gene: CACNA1S as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.143 | CACNA1S | Bryony Thompson Gene: cacna1s has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.142 | CACNA1S |
Bryony Thompson gene: CACNA1S was added gene: CACNA1S was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: CACNA1S was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CACNA1S were set to 28012042; 31227654; 33060286 Phenotypes for gene: CACNA1S were set to Congenital myopathy MONDO:0019952 Review for gene: CACNA1S was set to GREEN gene: CACNA1S was marked as current diagnostic Added comment: At least 5 families with biallelic variants and 3 families with monoallelic missense variants (mainly de novo) with congenital myopathy. A decrease in protein level and a major impairment of Ca2+ release induced by depolarization in cultured myotubes was identified in both the dominant and recessive families. Thus, loss of function is the mechanism of disease for CACNA1S-related congenital myopathy. Sources: Expert list |
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