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| Rhabdomyolysis and metabolic muscle disorders v5.4 | ATP2A2 | Sarah Leigh Classified gene: ATP2A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v5.4 | ATP2A2 | Sarah Leigh Gene: atp2a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v5.3 | ATP2A2 |
Sarah Leigh gene: ATP2A2 was added gene: ATP2A2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature Q1_25_ promote_green tags were added to gene: ATP2A2. Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP2A2 were set to 39970126 Phenotypes for gene: ATP2A2 were set to Dominant rhabdomyolysis Review for gene: ATP2A2 was set to GREEN Added comment: PMID: 39970126 reports a rare heterozygous missense ATP2A2 (alias symbol: SERCA2) variant (12:110777348G>A, c.1583G>A, p.R528Q) in 14 affected individuals from three unrelated families with recurrent rhabdomyolysis (an unaffected 6 year old child also carried the variant, however, symptoms of rhabdomyolysis may develop as he gets older). Haplotype analysis confirmed that the families were not related. In vitro and in vivo studies suggest that the variant affects ATP2A2 normal function, resulting in abnormal intracellular Ca2+ homeostasis in skeletal muscle, resulting in rhabdomyolysis. Morphant zebrafish embryos (atp2a2a knockdown) had morphological and functional muscle abnormalities, including a reduced body length and trunk muscle area and a reduced locomotor activity in zebrafish larvae. This phenotype was rescued by wild-type human ATP2A2 mRNA but not variant ATP2A2 mRNA. Sources: Literature |
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