Incidentalome
Gene: LMNA
Established association with multiple phenotypes.Created: 3 Aug 2020, 6:52 a.m. | Last Modified: 12 Aug 2022, 12:41 a.m.
Panel Version: 0.132
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 1A, MIM# 115200; Arrhythmogenic right ventricular cardiomyopathy; Lipodystrophy, familial partial, type 2, MIM# 151660; Emery-Dreifuss muscular dystrophy 2, MIM#181350; Mandibuloacral dysplasia 248370; Restrictive dermopathy, lethal 275210; Hutchinson-Gilford progeria 176670; Muscular dystrophy, congenital 613205
Publications
Benedetti et al 2007: genotype-phenotype correlation
Childhood onset: severe phenotype, GoF and DN with missense mutations, skeletal muscle involvement
Adult onset: milder phenotype, LoF and haploinsuffiency with PTCs, cardiac disorders or myopathyCreated: 6 Jan 2020, 11:58 p.m. | Last Modified: 6 Jan 2020, 11:58 p.m.
Panel Version: 0.0
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dilated cardiomyopathy; Charcot-Marie-Tooth disease, type 2B1; Emery-Dreifuss muscular dystrophy 2; Emery-Dreifuss muscular dystrophy 3; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford; Lipodystrophy, familial partial, type 2; Malouf syndrome; Mandibuloacral dysplasia; congenital muscular dystrophy; lethal restrictive dermopathy
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Tag cardiac tag was added to gene: LMNA.
Gene: lmna has been classified as Green List (High Evidence).
Phenotypes for gene: LMNA were changed from to Cardiomyopathy, dilated, 1A, MIM# 115200; Arrhythmogenic right ventricular cardiomyopathy; Lipodystrophy, familial partial, type 2, MIM# 151660; Emery-Dreifuss muscular dystrophy 2, MIM#181350; Mandibuloacral dysplasia 248370; Restrictive dermopathy, lethal 275210; Hutchinson-Gilford progeria 176670; Muscular dystrophy, congenital 613205
Publications for gene: LMNA were set to
Mode of inheritance for gene: LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: LMNA was added gene: LMNA was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LMNA was set to Unknown