Genomics England

LMNA

lamin A/C

Panel	Mode of inheritance	Details
Filter panels12 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, NOT imprinted	Phenotypes LMNA-related DCM
Green in Congenital muscular dystrophy and congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R432 Signed-off version 1.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Emery-Dreifuss muscular dystrophy 2, autosomal dominant, OMIM:181350, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, OMIM:616516, Muscular dystrophy, congenital, OMIM:613205
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660, CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588, HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670
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 2.25	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Muscular dystrophy, congenital (613205), Malouf syndrome (212112), Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350), Heart-hand syndrome, Slovenian type (610140), Hutchinson-Gilford progeria (176670), Cardiomyopathy, dilated, 1A (115200), Restrictive dermopathy, lethal (275210), Lipodystrophy, familial partial, type 2 (151660), Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516), Charcot-Marie-Tooth disease, type 2B1 (605588), Mandibuloacral dysplasia (248370), Cardiomyopathy, dilated, 1A
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes HUTCHINSON-GILFORD PROGERIA SYNDROME, MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED, HEART-HAND SYNDROME SLOVENIAN TYPE, MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM, LETHAL TIGHT SKIN CONTRACTURE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B, CARDIOMYOPATHY DILATED TYPE 1A
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 4.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Emery Dreifuss muscular dystrophy 3, AR, 181350, Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001, Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112, Cardiomyopathy, dilated, 1A, 115200, Lipodystrophy, familial partial, 2, 151660, Emery Dreifuss muscular dystrophy 2, AD, 181350, Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670, Charcot Marie Tooth disease, type 2B1, 605588
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 4.33	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Limb-Girdle Muscular Dystrophy, Recessive, Emery-Dreifuss muscular dystrophy 2, AD, 181350, Limb-girdle muscular dystrophy
Green in Monogenic diabetes R-numbers: R141 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes FPLD2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, Lipodystrophy, familial partial, 2, 151660, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Severe insulin resistance, partial lipodystrophy and diabetes
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 4.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Emery-Dreifuss muscular dystrophy 2, AD, 181350, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic, Congenital Muscular Dystrophy, LMNA-related (Dominant), Cardiomyopathy, dilated, 1A
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 2.8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Laminopathy-associated AV conduction block, atrioventricular block (disease), MONDO:0000465
Green in Severe insulin resistance and lipodystrophy syndromes R-numbers: R158 Signed-off version 4.56	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Lipodystrophy, familial partial, 2, 151660
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Emery-Dreifuss muscular dystrophy 2, 181350, Heart-hand syndrome, Slovenian type 610140, Charcot-Marie-Tooth disease, type 2B1 605588, Emery-Dreifuss muscular dystrophy 3, 616516, Cardiomyopathy, dilated, 1A 115200, Hutchinson-Gilford progeria 176670, Mandibuloacral dysplasia 248370, Lipodystrophy, familial partial, 2 151660, Restrictive dermopathy, lethal 275210, Foundation Trust) Mandibuloacral dysplasia 248370, 616516, Muscular dystrophy, congenital 613205, Muscular dystrophy, limb-girdle, type 1B 159001, Malouf syndrome 212112