Cardiomyopathies - including childhood onsetGene: GAA
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
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 II (Pompe disease); Hypotonia, muscle weakness, progressive respiratory failure; HCM, mixed
Glycogen storage disease II OMIM#232300
Created: 25 Mar 2019, 4:30 p.m.
Cardiomyopathy is a feature in the infantile forms of Pompe disease - Indeed, Pompe (1932) reported this condition as 'idiopathic hypertrophy of the heart,' and 'cardiomegalia glycogenica' is a synonym. Slonim et al. (2000) proposed a second, milder subtype of the infantile form. They reported 12 infants who showed less severe cardiomyopathy, absence of left ventricular outflow obstruction, and traces (less than 5%) of residual acid maltase activity; 9 of the 12 had longer survival with assisted ventilation and intubation.
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 NHS GMS was added to GAA.
gene: GAA was added gene: GAA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH,South West GLH Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAA were set to Hypotonia, muscle weakness, progressive respiratory failure; syndromic HCM; HCM, mixed; Glycogen storage disease II, 232300; Glycogen storage disease type II (Pompe disease)