Hereditary neuropathy
Gene: GAAEnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 18 panels
7 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Single paper, weak. PMID: 24627108 - weak evidenceCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy
Publications
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Richard Scott (Genomics England Curator)
Comment on list classification: Causes GSDIICreated: 8 Jul 2016, 3:59 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red due to review. Is a confirmed DD gene for glycogen storage disease Type II.Created: 4 May 2016, 11:19 a.m.
Comment on mode of inheritance: For Glycogen storage disease II (source: OMIM and G2P).Created: 4 May 2016, 10:03 a.m.
Alexander Rossor (UCL Institute of Neurology)
Acid maltase deficiencyCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Acid maltase deficiencyCreated: 8 Dec 2015, 3:05 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy
- OMIM
- 606800
- Clinvar variants
- Variants in GAA
- Penetrance
- Complete
- Publications
- 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
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Cardiomyopathy for gene: GAA Publications for gene GAA were changed from to 24627108
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GAA.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to GAA.
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GAA was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GAA was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)GAA was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory