1. Panels
  2. Newborns main panel
  3. AGL
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

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 15 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/26984562/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: AGL were changed from Glycogen storage disease III to Glycogen storage disease type III

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease III for gene: AGL

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease III for gene: AGL

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease III for gene: AGL

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease III for gene: AGL

9 Mar 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed was removed from gene: AGL.

9 Mar 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed tag was added to gene: AGL.

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease III for gene: AGL

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: AGL was added gene: AGL was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal