Genomics England

PRKAG2

protein kinase AMP-activated non-catalytic subunit gamma 2

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	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
Green in Glycogen storage disease R-numbers: R274 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Glycogen storage disease of heart, lethal congenital 261740
Green in Hypertrophic cardiomyopathy Component of the following Super Panels: - Sudden unexplained death or survivors of a cardiac event - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R131 Signed-off version 4.16	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)
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiomyopathy, hypertrophic 6, 600858, Glycogen storage disease of heart, lethal congenital, 261740, Wolff-Parkinson-White syndrome, 194200
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 5.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiomyopathy, familial hypertrophic 6,, syndromic HCM
Green in Progressive cardiac conduction disease Component of the following Super Panels: - Sudden unexplained death or survivors of a cardiac event - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R328 Signed-off version 2.9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Wolff-Parkinson-White syndrome, OMIM:194200
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiomyopathy, hypertrophic 6 600858, Glycogen storage disease of heart, lethal congenital 261740, Wolff-Parkinson-White syndrome 194200