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Rhabdomyolysis and Metabolic Myopathy v0.22 GMPPB Bryony Thompson Marked gene: GMPPB as ready
Rhabdomyolysis and Metabolic Myopathy v0.22 GMPPB Bryony Thompson Gene: gmppb has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.22 GMPPB Bryony Thompson Classified gene: GMPPB as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.22 GMPPB Bryony Thompson Gene: gmppb has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.21 GMPPB Bryony Thompson gene: GMPPB was added
gene: GMPPB was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPB were set to 28456886; 27874200; 25681410
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352; Limb myalgia; exercise intolerance; myoglobinuria
Review for gene: GMPPB was set to GREEN
Added comment: Three unrelated cases reported with rhabdomyolysis.
Sources: Expert list