Genomics England

BCL2 associated athanogene 3

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Dilated and arrhythmogenic 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: R132 Signed-off version 2.32	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cardiomyopathy, dilated, 1HH, 613881, Myopathy, myofibrillar, 6, 612954
Green in Distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes myofibrillar myopathy 6, 612954
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 4.37	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myopathy, myofibrillar, 6, 612954
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 Cardiomyopathy, dilated, 1HH