Rhabdomyolysis and Metabolic Myopathy

Gene: GAA

Green List (high evidence)

GAA (glucosidase alpha, acid)
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 14 panels

2 reviews

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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

History Filter Activity

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gaa has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: GAA were changed from Glycogen storage disease II 232300 to Glycogen storage disease II (MIM#232300)

14 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GAA were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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