Dilated Cardiomyopathy

Gene: LMNA

Green List (high evidence)

DEFINITIVE by ClinGen.

Created: 18 May 2021, 3:18 a.m. | Last Modified: 18 May 2021, 3:18 a.m.

Panel Version: 0.111

Comment when marking as ready: Heterozygous variants linked to DCM.

Created: 7 Jan 2020, 1:23 a.m. | Last Modified: 7 Jan 2020, 1:23 a.m.

Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1A, MIM# 115200

Publications

• 33947203

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