Paediatric or syndromic cardiomyopathy
Gene: AGL
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
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
Source Expert Review Amber was added to AGL. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source NHS GMS was added to AGL.
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