Hyperammonaemia
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
2 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pompe Disease, Glycogen storage disease type 2
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 606800
- Clinvar variants
- Variants in GAA
- Penetrance
- Complete
- Panels with this gene
-
- 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
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Fetal anomalies
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)GAA was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory