Lysosomal Storage Disorder
Gene: GAAEnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Gene encodes lysosomal acid alpha-glucosidase. Well established gene-disease association.Created: 8 Apr 2021, 10:41 a.m. | Last Modified: 8 Apr 2021, 10:41 a.m.
Panel Version: 0.98
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease II, MIM# 232300; MONDO:0009290
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Glycogen storage disease II, MIM# 232300
- MONDO:0009290
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gaa has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GAA were changed from to Glycogen storage disease II, MIM# 232300; MONDO:0009290
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GAA were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GAA was added gene: GAA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GAA was set to Unknown