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Prepair 1000+

Gene: GAA

Green List (high evidence)

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

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association
Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy
Severity: Infantile form fatal in first year of life if untreated
Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills

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.

Some features which may be present in a neonate: hepatomegaly, splenomegaly and cardiomegaly

PMID: 29880332 - 16 adult patients (9 families) with Pombe disease. Proximal muscle weakness (12/16) and elevated CK were reported. Muscle biopsy showed vacuoles in 4/9 patients. Patients were described as having LGMD.
Created: 11 Mar 2025, 6:50 a.m. | Last Modified: 11 Mar 2025, 6:50 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease II, MIM#232300

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Glycogen storage disease II, 232300 (3) for gene: GAA

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GAA was added gene: GAA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)