Genomics England

FLNC

filamin C

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Arrhythmogenic right ventricular 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: R133 Signed-off version 3.11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047, Cardiomyopathy, familial restrictive 5, OMIM:617047, Hypertrophic cardiomyopathy 26, MONDO:0014883
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047, Cardiomyopathy, familial restrictive 5, OMIM:617047, Hypertrophic cardiomyopathy 26, MONDO:0014883, Myopathy, distal, 4, OMIM:614065, Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550, Myopathy, myofibrillar, 5, OMIM:609524, Myopathy, myofibrillar, 5, MONDO:0012289
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 2.31	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047, Cardiomyopathy, familial restrictive 5, OMIM:617047, Hypertrophic cardiomyopathy 26, MONDO:0014883, Myopathy, myofibrillar, 5, OMIM:609524, Myopathy, myofibrillar, 5, MONDO:0012289
Green in Distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myopathy, distal, 4, OMIM:614065, Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550, Myopathy, myofibrillar, 5, OMIM:609524, Myopathy, myofibrillar, 5, MONDO:0012289
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Arthrogryposis, MONDO:0008779
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 4.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047, Cardiomyopathy, familial restrictive 5, OMIM:617047, Hypertrophic cardiomyopathy 26, MONDO:0014883
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 4.34	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myopathy, distal, 4, OMIM:614065, Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550, Myopathy, myofibrillar, 5, OMIM:609524, Myopathy, myofibrillar, 5, MONDO:0012289
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 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047, Cardiomyopathy, familial restrictive 5, OMIM:617047, Hypertrophic cardiomyopathy 26, MONDO:0014883, Myopathy, myofibrillar, 5, OMIM:609524, Myopathy, myofibrillar, 5, MONDO:0012289