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  3. PRKAG2
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Progressive cardiac conduction disease

Gene: PRKAG2

Green List (high evidence)
PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 14 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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
Created: 2 Dec 2019, 10:38 a.m.
Last Modified: 2 Dec 2019, 10:38 a.m.
Panel version: 0.30

James Eden (Manchester)

Green List (high evidence)

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

Created: 2 Oct 2019, 9:53 a.m.
Last Modified: 2 Oct 2019, 9:53 a.m.
Panel version: 0.28

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton diagnostic panel. Pathogenic and likely pathogenic variants deteced in patients with heart block/conduction disease. Extensive literature evidence
Created: 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

Created: 23 Sep 2019, 2:19 p.m.
Last Modified: 23 Sep 2019, 2:19 p.m.
Panel version: 0.28

Ellen McDonagh (Genomics England Curator)

I don't know

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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.14

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Sources: Expert list
Created: 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

Created: 24 Jan 2019, 12:40 p.m.

Panel version: 0.6

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

2 Mar 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PRKAG2 were set to

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to PRKAG2. Rating Changed from Red List (low evidence) to Green List (high evidence)

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to PRKAG2.

24 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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