Additional findings_Adult
Gene: GAA
GAA (glucosidase alpha, acid)
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Included in ACMG V3.0 SF list, presentation can be in adulthood, effective enzyme replacement therapy available.
Sources: Expert listCreated: 26 May 2021, 8:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease II 232300; Pompe disease
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Glycogen storage disease II 232300
- Pompe disease
- 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
26 May 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gaa has been classified as Green List (High Evidence).
26 May 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gaa has been classified as Green List (High Evidence).
26 May 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GAA was added gene: GAA was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to 34012068 Phenotypes for gene: GAA were set to Glycogen storage disease II 232300; Pompe disease Review for gene: GAA was set to GREEN