| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rhabdomyolysis and Metabolic Myopathy v1.10 | SLC52A3 | Bryony Thompson Marked gene: SLC52A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.10 | SLC52A3 | Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.10 | SLC52A3 | Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.10 | SLC52A3 | Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.9 | SLC52A3 |
Bryony Thompson gene: SLC52A3 was added gene: SLC52A3 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 29193829; 31868069; 29053833; 26072523 Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Review for gene: SLC52A3 was set to GREEN gene: SLC52A3 was marked as current diagnostic Added comment: Phenotype can resemble Multiple Acyl-CoA Dehydrogenase Deficiency and can mimic a mitochondrial myopathy. Sources: Expert list |
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