| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rhabdomyolysis and Metabolic Myopathy v1.25 | ATP2A2 | Zornitza Stark Phenotypes for gene: ATP2A2 were changed from Congenital myopathy, MONDO:0019952, ATP2A2-related; rhabdomyolysis to Congenital myopathy, MONDO:0019952, ATP2A2-related; {Rhabdomyolysis, susceptibility to, 2}, MIM# 621236 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.24 | ATP2A2 | Zornitza Stark edited their review of gene: ATP2A2: Changed phenotypes: Congenital myopathy, MONDO:0019952, ATP2A2-related, {Rhabdomyolysis, susceptibility to, 2}, MIM# 621236 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.24 | ATP2A2 | Zornitza Stark Phenotypes for gene: ATP2A2 were changed from Congenital myopathy, MONDO:0019952, ATP2A2-related; rhabdomyolysis to Congenital myopathy, MONDO:0019952, ATP2A2-related; rhabdomyolysis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.23 | ATP2A2 | Zornitza Stark Marked gene: ATP2A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.23 | ATP2A2 | Zornitza Stark Gene: atp2a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.23 | ATP2A2 | Zornitza Stark Phenotypes for gene: ATP2A2 were changed from Congenital myopathy, MONDO:0019952, ATP2A2-related to Congenital myopathy, MONDO:0019952, ATP2A2-related; rhabdomyolysis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.22 | ATP2A2 | Zornitza Stark Classified gene: ATP2A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.22 | ATP2A2 | Zornitza Stark Gene: atp2a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.21 | ATP2A2 |
Zornitza Stark gene: ATP2A2 was added gene: ATP2A2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP2A2 were set to 39970126 Phenotypes for gene: ATP2A2 were set to Congenital myopathy, MONDO:0019952, ATP2A2-related Review for gene: ATP2A2 was set to AMBER Added comment: Recurrent missense variant, c.1583G>A, p.R528Q, identified in 14 individuals from 3 unrelated families. Supportive functional data, including a zebrafish model. Association established for this variant only. Sources: Literature |
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