LMNA

PanelMode of inheritanceDetails
13 panels
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R133
Signed-off version 2.9
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LMNA-related DCM
R-numbers: R135
Signed-off version 1.4
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital Muscular Dystrophy, LMNA-related (Dominant), Emery-Dreifuss muscular dystrophy 2, AD, 181350
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital fiber type disproportion myopathy
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588, CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112, MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660, CARDIOMYOPATHY DILATED TYPE 1A 115200, HUTCHINSON-GILFORD PROGERIA SYNDROME 176670, LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210, HEART-HAND SYNDROME SLOVENIAN TYPE 610140, MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY 248370, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001, EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R132
Signed-off version 1.6
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
R-numbers: R21
Signed-off version 1.92
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
R-numbers: R78
Signed-off version 1.36
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Limb-Girdle Muscular Dystrophy, Recessive, Emery-Dreifuss muscular dystrophy 2, AD, 181350, Limb-girdle muscular dystrophy
R-numbers: R158
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lipodystrophy, familial partial, 2, 151660
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
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R328
Signed-off version 1.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Laminopathy-associated AV conduction block
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
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