Ketotic hypoglycaemia
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
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted to red due to expert review.Created: 7 Jun 2016, 2:33 p.m.
Alexander Broomfield (Central Manchester Foundation Trust)
Cardiomyopathy and skeltal myopahty no evidence for hypoglycaemiaCreated: 20 Oct 2015, 5:43 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Glycogen storage disease II, 232300
- Glycogen Storage Disease, Type II
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
- Glycogen Storage Disease II
- OMIM
- 606800
- Clinvar variants
- Variants in GAA
- Penetrance
- Complete
- Panels with this gene
-
- Lysosomal storage disorder
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Hyperammonaemia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- DDG2P
- Hypertrophic cardiomyopathy
- Glycogen storage disease
- Hereditary neuropathy
- Arthrogryposis
History Filter Activity
7 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
7 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 Apr 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
19 Oct 2015, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)GAA was added to Ketotic hypoglycaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN