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  2. Paediatric or syndromic cardiomyopathy
  3. PRKAG2
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Paediatric or syndromic cardiomyopathy

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

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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
Created: 2 Dec 2019, 3:58 p.m.
Last Modified: 2 Dec 2019, 3:58 p.m.
Panel version: 0.16

Rebecca Whittington (South West GLH)

I don't know

Cardiomyopathy, hypertrophic 6 OMIM#600858; Glycogen storage disease of heart, lethal congenital OMIM#261740; Wolff-Parkinson-White syndrome OMIM#194200
Created: 25 Mar 2019, 4:30 p.m.
Well characterised gene. Alfares et al (2015) Genet Med 17(11):880. Walsh et al (2017) Genet Med 19:192. OMIM: all adult onset.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Mar 2019, 4:24 p.m.

Panel version: Imported from Previous cardiomyopathies - including childhood onset panel version 1.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • London South GLHSouth West GLH
Phenotypes
  • Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
  • Cardiomyopathy, familial hypertrophic 6,
  • syndromic HCM
OMIM
602743
Clinvar variants
Variants in PRKAG2
Penetrance
None
Publications
  • 194200
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PRKAG2.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: PRKAG2 was added gene: PRKAG2 was added to Cardiomyopathies - including childhood onset. Sources: London South GLHSouth West GLH,Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 194200 Phenotypes for gene: PRKAG2 were set to Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; Cardiomyopathy, familial hypertrophic 6,; syndromic HCM