Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Rhabdomyolysis and Metabolic Myopathy v0.43 | SGCA | Bryony Thompson Marked gene: SGCA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.43 | SGCA | Bryony Thompson Gene: sgca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.43 | SGCA | Bryony Thompson Classified gene: SGCA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.43 | SGCA | Bryony Thompson Gene: sgca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.42 | SGCA |
Bryony Thompson gene: SGCA was added gene: SGCA was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGCA were set to 27297959; 26453141; 23989969 Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Review for gene: SGCA was set to GREEN Added comment: Four unrelated cases reported with rhabdomyolysis or exercise intolerance. Sources: Expert list |