Genomics England

TTN

titin

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital titinopathy with arthrogryposis, Hereditary Myopathy with Early Respiratory Failure, Cardiomyopathy, familial hypertrophic, 9, 613765, Hereditary Myopathy with Early Respiratory Failure (dominant), Udd Distal Myopathy (Dominant), Salih Myopathy (recessive), core myopathy with heart disease
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 4.42	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Salih myopathy, OMIM:611705
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705
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 Myopathy, proximal, with early respiratory muscle involvement (603689), Cardiomyopathy, familial hypertrophic, 9 (613765), Tibial muscular dystrophy, tardive (600334), Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807), Cardiomyopathy, dilated, 1G (604145), Salih myopathy (611705), Cardiomyopathy, dilated, 1G
Green in Distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Tibial muscular dystrophy, tardive, 600334
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes congenital titinopathy with arthrogryposis
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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, limb-girdle, type 2J, 608807, Limb girdle muscular dystrophy, Distal myopathy, Myofibrillar myopathy, Congenital myopathy, dilated cardiomyopathy, HMERF, arthrogryposis
Green in Paediatric disorders - additional genes Component of the following Super Panels: - Paediatric disorders Signed-off version 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY
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, familial hypertrophic, 9,, Cardiomyopathy, dilated, 1G