Rhabdomyolysis and Metabolic Myopathy
Gene: GAA
Well reported gene causing Pompe's disease presenting as a metabolic myopathy with multiorgan dysfunction condition. Distinct genotype-phenotype correlation has been established, with age of onset and severity depending on residual GAA activity.Created: 17 Jun 2020, 6:49 a.m. | Last Modified: 17 Jun 2020, 6:49 a.m.
Panel Version: 0.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease II (MIM#232300)
Publications
Many PTCs found throughout the gene and NMD predicted. Functional analysis of missense confirms LOF effect (OMIM)Created: 22 May 2020, 4:54 a.m. | Last Modified: 22 May 2020, 4:54 a.m.
Panel Version: 0.2861
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease II 232300
Gene: gaa has been classified as Green List (High Evidence).
Phenotypes for gene: GAA were changed from Glycogen storage disease II 232300 to Glycogen storage disease II (MIM#232300)
Publications for gene: GAA were set to
gene: GAA was added gene: GAA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAA were set to Glycogen storage disease II 232300