Cardiomyopathies - including childhood onsetGene: GBE1
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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.
Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form; hypotonia, exercise intolerance, polyglucosan bodies in affected tissues; DCM; Hypertrophic-hypocontractile cardiomyopathy
Glycogen storage disease IV; OMIM#232500;Polyglucosan body disease, adult form OMIM#263570
Created: 25 Mar 2019, 4:30 p.m.
Recommended testing in guidelines on BioMet - Bowron & Olpin (2012). Glycogen storage disease IV - cardiomyopathy seen in subset of patients - particularly the early infant onset. - OMIM. 43 DM variants on HGMD, variable onset, only one as neonatal onset but quite a few reports discuss paediatric onset. Cardiomyopathy does not seem to be a key presenting feature.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Red was added to GBE1. Source NHS GMS was added to GBE1. Rating Changed from Green List (high evidence) to Red List (low evidence)
gene: GBE1 was added gene: GBE1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 27604308 Phenotypes for gene: GBE1 were set to DCM; Glycogen Storage Disease Type IV; Hypertrophic-hypocontractile cardiomyopathy; Polyglucosan body disease, adult form, 263570; Glycogen Storage Disease; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form; hypotonia, exercise intolerance, polyglucosan bodies in affected tissues; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease IV, 232500