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Molecular autopsy

Gene: LMNA

Green List (high evidence)
LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 574 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with dilated cardiomyopathy 1A, definitive association with Emery-Dreifuss muscular dystrophy 2, autosomal dominant (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiomyopathy, dilated, 1A (115200); Charcot-Marie-Tooth disease, type 2B1 (605588); Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350); Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516); Heart-hand syndrome, Slovenian type (610140); Hutchinson-Gilford progeria (176670); Lipodystrophy, familial partial, type 2 (151660); Malouf syndrome (212112); Mandibuloacral dysplasia (248370); Muscular dystrophy, congenital (613205); Restrictive dermopathy, lethal (275210)

Publications

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350)
  • Lipodystrophy, familial partial, type 2 (151660)
  • Malouf syndrome (212112)
  • Mandibuloacral dysplasia (248370)
  • Cardiomyopathy, dilated, 1A (115200)
  • Muscular dystrophy, congenital (613205)
  • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic
  • Hutchinson-Gilford progeria (176670)
  • Heart-hand syndrome, Slovenian type (610140)
  • Emery-Dreifuss muscular dystrophy 2, AD, 181350
  • Cardiomyopathy, dilated, 1A
  • Charcot-Marie-Tooth disease, type 2B1 (605588)
  • Restrictive dermopathy, lethal (275210)
  • Congenital Muscular Dystrophy, LMNA-related (Dominant)
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516)
OMIM
150330
Clinvar variants
Variants in LMNA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to LMNA.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to LMNA. Added phenotypes Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350); Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516); Lipodystrophy, familial partial, type 2 (151660); Malouf syndrome (212112); Cardiomyopathy, dilated, 1A (115200); Mandibuloacral dysplasia (248370); Hutchinson-Gilford progeria (176670); Muscular dystrophy, congenital (613205); Heart-hand syndrome, Slovenian type (610140); Restrictive dermopathy, lethal (275210); Charcot-Marie-Tooth disease, type 2B1 (605588) for gene: LMNA Publications for gene LMNA were changed from 15148145; 15622532; 18551513 to 27532257; 20186049

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: LMNA was added gene: LMNA was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNA were set to 15148145; 15622532; 18551513 Phenotypes for gene: LMNA were set to Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic; Congenital Muscular Dystrophy, LMNA-related (Dominant); Emery-Dreifuss muscular dystrophy 2, AD, 181350; Cardiomyopathy, dilated, 1A