PRKAG2

protein kinase AMP-activated non-catalytic subunit gamma 2
OMIM: 602743
PanelMode of inheritanceDetails
7 panels
R-numbers: R135
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiomyopathy, familial hypertrophic 6,, syndromic HCM
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, hypertrophic 6, OMIM:600858, Hypertrophic cardiomyopathy 6, MONDO:0010946, Glycogen storage disease of heart, lethal congenital, OMIM:261740, Lethal congenital glycogen storage disease of heart, MONDO:0009867
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 unexplained death or survivors of a cardiac event
R-numbers: R131
Signed-off version 3.1
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 3.2
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 unexplained death or survivors of a cardiac event
R-numbers: R328
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Wolff-Parkinson-White syndrome, OMIM:194200
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic 6 600858, Glycogen storage disease of heart, lethal congenital 261740, Wolff-Parkinson-White syndrome 194200