Rhabdomyolysis and Metabolic Myopathy
Gene: GAAEnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 14 panels
2 reviews
Crystle Lee (Victorian Clinical Genetics Services)
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Glycogen storage disease II (MIM#232300)
- OMIM
- 606800
- Clinvar variants
- Variants in GAA
- Penetrance
- None
- Publications
- Panels with this gene
-
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Prepair 500+
- Hypertrophic cardiomyopathy_HCM
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Additional findings_Adult
- Glycogen Storage Diseases
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gaa has been classified as Green List (High Evidence).
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)
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: GAA were set to
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