Rhabdomyolysis and metabolic muscle disorders
Gene: GAAEnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 18 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 18 variants reported.Created: 2 Dec 2016, 11:38 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Glycogen storage disease II 232300
- OMIM
- 606800
- Clinvar variants
- Variants in GAA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- 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
- Hyperammonaemia
- Likely inborn error of metabolism
- Acute rhabdomyolysis
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for GAA were set to 25929793; 14695532; 18425781
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)GAA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Literature,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene GAA was set to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene GAA were set to Glycogen storage disease II 232300
Added New Source
Sarah Leigh (Genomics England Curator)GAA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
Created
Sarah Leigh (Genomics England Curator)GAA was created by sleigh