Lysosomal storage disorder
Gene: GAAEnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 18 panels
2 reviews
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Carol Hardy (West Midlands Regional Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease II 232300
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- North London GLH
- Phenotypes
-
- Glycogen storage disease II OMIM:232300
- glycogen storage disease II MONDO:0009290
- OMIM
- 606800
- Clinvar variants
- Variants in GAA
- Penetrance
- None
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Hyperammonaemia
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Glycogen storage disease
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Acute rhabdomyolysis
- Lysosomal storage disorder
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GAA were changed from Glycogen storage disease II 232300 to Glycogen storage disease II OMIM:232300; glycogen storage disease II MONDO:0009290
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GAA was added gene: GAA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS 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