Glycogen storage disease
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
Publications
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
- London North GLH
- Expert Review Green
- Phenotypes
-
- Glycogen storage disease II 232300
- OMIM
- 606800
- Clinvar variants
- Variants in GAA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Lysosomal storage disorder
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Arthrogryposis
- Rhabdomyolysis and metabolic muscle disorders
- Hyperammonaemia
- Dystonia, chorea or related movement disorder, childhood onset
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hereditary neuropathy or pain disorder
- Hereditary neuropathy
- Fetal anomalies
- Glycogen storage disease
- DDG2P
- Acute rhabdomyolysis
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GAA was added gene: GAA was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to 20301438 Phenotypes for gene: GAA were set to Glycogen storage disease II 232300