Previous cardiomyopathies - including childhood onset
Gene: AGL
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
Gene: agl has been classified as Green List (High Evidence).
Publications for gene: AGL were set to 27604308
Source MetBioNet was added to AGL. Added phenotypes HCM; Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases; Hypertrophic-hypocontractile cardiomyopathy; Glycogen storage disease type IIIa (debrancher enzyme deficiency) for gene: AGL
Checked against the component panels and ready to promote to version 1.
Added phenotypes syndromic HCM for gene: AGL
gene: AGL was added gene: AGL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGL were set to 27604308 Phenotypes for gene: AGL were set to Glycogen storage disease type III, Cori (Glycogen storage disorders); Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease IIIb, 232400; myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; Glycogen Storage Disease Type III; Glycogen Storage Disorders- Muscle; Glycogen storage disease IIIa, 232400