Incidentalome

Gene: LMNA

Green List (high evidence)

LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 25 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Teresa Zhao (Victorian Clinical Genetics Services)

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

Mode of pathogenicity
Other

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
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
Tags
cardiac
OMIM
150330
Clinvar variants
Variants in LMNA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag cardiac tag was added to gene: LMNA.

12 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lmna has been classified as Green List (High Evidence).

12 Aug 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Aug 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LMNA were set to

12 Aug 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Aug 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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