Ketotic hypoglycaemia
Gene: AGL
AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase)
EnsemblGeneIds (GRCh38): ENSG00000162688
EnsemblGeneIds (GRCh37): ENSG00000162688
OMIM: 610860, Gene2Phenotype
AGL is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000162688
EnsemblGeneIds (GRCh37): ENSG00000162688
OMIM: 610860, Gene2Phenotype
AGL is in 15 panels
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green by expert reviewer for inclusion on this panel. It is a confirmed DD gene for glycogen storage disease Type III, and multiple cases for different variants reported in OMIM.Created: 7 Jun 2016, 2:20 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
- Glycogen storage disease IIIa, 232400
- Glycogen storage disease IIIb, 232400
- Glycogen Storage Disease Type III
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
- OMIM
- 610860
- Clinvar variants
- Variants in AGL
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Hyperammonaemia
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Hypertrophic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Glycogen storage disease
- DDG2P
- Acute rhabdomyolysis
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Intellectual disability
History Filter Activity
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Oct 2015, Gel status: 4
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
19 Oct 2015, Gel status: 0
Added New Source
Alexander Broomfield (Central Manchester Foundation Trust)AGL was added to Ketotic hypoglycaemiapanel. Sources: Literature