| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rhabdomyolysis and Metabolic Myopathy v0.170 | ABHD5 | Bryony Thompson Marked gene: ABHD5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.170 | ABHD5 | Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.170 | ABHD5 | Bryony Thompson Classified gene: ABHD5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.170 | ABHD5 | Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.169 | ABHD5 |
Bryony Thompson gene: ABHD5 was added gene: ABHD5 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 31883530 Phenotypes for gene: ABHD5 were set to Dorfman-Chanarin disease MONDO:0010155 Review for gene: ABHD5 was set to GREEN gene: ABHD5 was marked as current diagnostic Added comment: A disorder of glycerolipid metabolism. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy. Sources: Expert list |
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