PRKAG2

protein kinase AMP-activated non-catalytic subunit gamma 2
OMIM: 602743
PanelMode of inheritanceDetails
6 panels
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiomyopathy, familial hypertrophic 6,, syndromic HCM
R-numbers: R274
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glycogen storage disease of heart, lethal congenital 261740
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R131
Signed-off version 2.11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Wolff-Parkinson-White syndrome (194200), syndromic HCM, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiomyopathy, familial hypertrophic 6,, Cardiomyopathy, familial hypertrophic 6 (600858), Glycogen storage disease of heart, lethal congenital (261740)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic 6, 600858, Glycogen storage disease of heart, lethal congenital, 261740, Wolff-Parkinson-White syndrome, 194200
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R328
Signed-off version 1.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial Wolff-Parkinson-White (WPW) syndrome, pre-excitation and conduction defects
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic 6 600858, Glycogen storage disease of heart, lethal congenital 261740, Wolff-Parkinson-White syndrome 194200