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Severe Paediatric Disorders

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 16 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PRKAG2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardiomyopathy, hypertrophic 6, 600858 (3) | Glycogen storage disease of heart, lethal congenital, 261740 (3) | Wolff-Parkinson-White syndrome, 194200 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Glycogen storage disease of heart, lethal congenital, 261740
  • Cardiomyopathy, hypertrophic 6, 600858
  • Wolff-Parkinson-White syndrome, 194200
OMIM
602743
Clinvar variants
Variants in PRKAG2
Penetrance
None
Publications
Panels with this gene