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STRs in panel
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Cardiomyopathies - including childhood onset

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 16 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • MetBioNet
  • Expert Review Green
  • Expert Review Green
  • 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

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