Incidentalome

Gene: LMNA

Green List (high evidence)

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

• 22199124
• 25837155
• 26620845

Green List (high evidence)

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 myopathy

Created: 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

• PMID: 17377071

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice