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Rhabdomyolysis and Metabolic Myopathy

Gene: AGL

Green List (high evidence)
AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase)
EnsemblGeneIds (GRCh38): ENSG00000162688
EnsemblGeneIds (GRCh37): ENSG00000162688
OMIM: 610860, Gene2Phenotype
AGL is in 11 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.
Created: 30 Mar 2022, 12:43 a.m. | Last Modified: 30 Mar 2022, 12:43 a.m.
Panel Version: 0.12296

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease IIIa and IIIb, MIM#232400

Created: 30 Mar 2022, 12:43 a.m.
Last Modified: 30 Mar 2022, 12:43 a.m.
Panel version: Imported from Mendeliome panel version 0.12296

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Metabolic condition with prominent muscle phenotype.
Created: 17 Jun 2020, 6:55 a.m. | Last Modified: 17 Jun 2020, 6:55 a.m.
Panel Version: 0.221
Created: 17 Jun 2020, 6:55 a.m.
Last Modified: 17 Jun 2020, 6:55 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 0.221

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Glycogen storage disease IIIa 232400
  • Glycogen storage disease IIIb 232400
OMIM
610860
Clinvar variants
Variants in AGL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: agl has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: AGL were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: AGL was added gene: AGL was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGL were set to Glycogen storage disease IIIa 232400; Glycogen storage disease IIIb 232400