Cardiomyopathy_Paediatric
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
Paul De Fazio (Victorian Clinical Genetics Services)
Syndromic, infantile onset HCM is a feature. Red in PanelApp GEL and curated for syndromes by ClinGen working group.
There is one report of one individual with late onset disease where cardiomyopathy was the only presenting feature (though not specifically HCM) (PMID: 27142047).Created: 29 Jul 2020, 4:30 a.m. | Last Modified: 29 Jul 2020, 4:30 a.m.
Panel Version: 0.89
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease II MIM#232300
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- NHS GMS
- Expert Review Green
- MetBioNet
- London South GLH
- Phenotypes
-
- HCM, mixed
- Glycogen storage disease II, 232300
- syndromic HCM
- Hypotonia, muscle weakness, progressive respiratory failure
- Glycogen storage disease type II (Pompe disease)
- OMIM
- 606800
- Clinvar variants
- Variants in GAA
- Penetrance
- None
- 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
28 Jul 2020, 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 Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAA were set to HCM, mixed; Glycogen storage disease II, 232300; syndromic HCM; Hypotonia, muscle weakness, progressive respiratory failure; Glycogen storage disease type II (Pompe disease)