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  3. AGL
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Glycogen Storage Diseases

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 13 Feb 2021, 9:11 a.m. | Last Modified: 13 Feb 2021, 9:11 a.m.
Panel Version: 0.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease IIIa and IIIb, MIM# 232400

Created: 13 Feb 2021, 9:11 a.m.
Last Modified: 13 Feb 2021, 9:11 a.m.
Panel version: 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease IIIa and IIIb, MIM# 232400
OMIM
610860
Clinvar variants
Variants in AGL
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AGL were changed from to Glycogen storage disease IIIa and IIIb, MIM# 232400

13 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGL was added gene: AGL was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AGL was set to Unknown