Progressive cardiac conduction disease
Gene: PRKAG2
Submitted on behalf of the GMS Cardiology specialist group. Promoted from Red to Green as the group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Tested on cardiomyopathy panel in Manchester. Literature indicates PRKAG2 syndrome includes symptoms of conduction disease.Created: 2 Oct 2019, 9:53 a.m. | Last Modified: 2 Oct 2019, 9:53 a.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740; Wolff-Parkinson-White syndrome 194200
Publications
Variants in this GENE are reported as part of current diagnostic practice
On CGGL Royal Brompton diagnostic panel. Pathogenic and likely pathogenic variants deteced in patients with heart block/conduction disease. Extensive literature evidenceCreated: 23 Sep 2019, 2:19 p.m. | Last Modified: 23 Sep 2019, 2:19 p.m.
Panel Version: 0.28
Phenotypes
OMIM 600858 Cardiomyopathy, hypertrophic 6; 194200 Wolff-Parkinson-White syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Sources: Expert listCreated: 24 Jan 2019, 12:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial Wolff-Parkinson-White (WPW) syndrome, pre-excitation and conduction defects
Phenotypes for gene: PRKAG2 were changed from Familial Wolff-Parkinson-White (WPW) syndrome, pre-excitation and conduction defects to Wolff-Parkinson-White syndrome, OMIM:194200
Publications for gene: PRKAG2 were set to
Source Expert Review Green was added to PRKAG2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source London South GLH was added to PRKAG2.
gene: PRKAG2 was added gene: PRKAG2 was added to Progressive cardiac conduction disease. Sources: Expert list Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAG2 were set to Familial Wolff-Parkinson-White (WPW) syndrome, pre-excitation and conduction defects Review for gene: PRKAG2 was set to AMBER