Hyperammonaemia
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
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.
Peter Clayton (UCL Institute of Child Health)
Hyperamonaemia could be present in the very few that develop cirrhosis and liver failureCreated: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen debranching enzyme deficiency, glycogen storage disease type III
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 610860
- Clinvar variants
- Variants in AGL
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- DDG2P
- Intellectual disability
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Hyperammonaemia
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Fetal anomalies
- Undiagnosed metabolic disorders
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)AGL was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory