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  2. Paediatric or syndromic cardiomyopathy
  3. AGL
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Paediatric or syndromic cardiomyopathy

Gene: AGL

Amber List (moderate evidence)
AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase)
EnsemblGeneIds (GRCh38): ENSG00000162688
EnsemblGeneIds (GRCh37): ENSG00000162688
OMIM: 610860, Gene2Phenotype
AGL is in 15 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 11:32 a.m. | Last Modified: 8 Mar 2022, 11:32 a.m.
Panel Version: 1.67
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Created: 2 Dec 2019, 3:58 p.m.
Last Modified: 2 Dec 2019, 3:58 p.m.
Panel version: 1.67

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Mode of inheritance for this gene for the phenotype described in the MetBioNet guideline checked against OMIM.
Created: 18 Apr 2019, 11:58 a.m.
This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.
Created: 18 Apr 2019, 11:53 a.m.

Phenotypes
Glycogen storage disease type IIIa (debrancher enzyme deficiency); Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases; HCM; Hypertrophic-hypocontractile cardiomyopathy

Publications

  • National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp

Created: 18 Apr 2019, 11:53 a.m.

Panel version: Imported from Previous cardiomyopathies - including childhood onset panel version 1.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • MetBioNet
  • MetBioNet
Phenotypes
  • Hypertrophic-hypocontractile cardiomyopathy
  • Glycogen storage disease type IIIa (debrancher enzyme deficiency)
  • syndromic HCM
  • Glycogen storage disease IIIb, 232400
  • myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
  • Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases
  • Glycogen Storage Disease
  • Glycogen Storage Disease Type III
  • Glycogen storage disease IIIa, 232400
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen storage disease type III, Cori (Glycogen storage disorders)
  • HCM
OMIM
610860
Clinvar variants
Variants in AGL
Penetrance
None
Publications
  • National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp
  • 27604308
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to AGL. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to AGL.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: AGL was added gene: AGL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGL were set to National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp; 27604308 Phenotypes for gene: AGL were set to Hypertrophic-hypocontractile cardiomyopathy; Glycogen storage disease type IIIa (debrancher enzyme deficiency); syndromic HCM; Glycogen storage disease IIIb, 232400; myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases; Glycogen Storage Disease; Glycogen Storage Disease Type III; Glycogen storage disease IIIa, 232400; Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease type III, Cori (Glycogen storage disorders); HCM