Acute rhabdomyolysis
Gene: GAA
GAA (glucosidase alpha, acid)
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 18 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:31 p.m. | Last Modified: 16 Feb 2022, 2:31 p.m.
Panel Version: 0.6
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Glycogen storage disease II, OMIM:232300
- OMIM
- 606800
- Clinvar variants
- Variants in GAA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Intellectual disability
- Hyperammonaemia
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
19 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: GAA was added gene: GAA was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to 25929793; 18425781; 14695532 Phenotypes for gene: GAA were set to Glycogen storage disease II, OMIM:232300