Hypertrophic cardiomyopathy
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
3 reviews
Rebecca Whittington (South West GLH)
Glycogen storage disease II (232300)Created: 25 Mar 2019, 4:30 p.m.
Cardiomyopathy is a feature in the infantile forms of Pompe disease :Indeed, Pompe (1932) reported this condition as 'idiopathic hypertrophy of the heart,' and 'cardiomegalia glycogenica' is a synonym.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- London South GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- 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
- Fetal anomalies
- 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
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to GAA. Mode of inheritance for gene GAA was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2019, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to GAA.
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GAA was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list