Dilated and arrhythmogenic cardiomyopathy
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
8 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
On CGGL Royal Brompton DCM panel. Cardinal gene for LMNA-related DCMCreated: 19 Sep 2019, 9:52 p.m. | Last Modified: 19 Sep 2019, 9:52 p.m.
Panel Version: 0.44
Phenotypes
OMIM: 11520 Cardiomyopathy, dilated, 1A
Publications
- (GeneReviews: LMNA-Related Dilated Cardiomyopathy)
Variants in this GENE are reported as part of current diagnostic practice
Rebecca Whittington (South West GLH)
Cardiomyopathy, dilated, 1A OMIM#115200; Charcot-Marie-Tooth disease, type 2B1 OMIM#605588; Emery-Dreifuss muscular dystrophy 2, autosomal dominant OMIM#181350; Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM#6165163; Heart-hand syndrome, Slovenian type 6OMIM#10140; Hutchinson-Gilford progeria OMIM#176670; Lipodystrophy, familial partial, type 2 OMIM#151660; Malouf syndrome OMIM#212112; Mandibuloacral dysplasia OMIM#248370; Muscular dystrophy, congenital OMIM#613205; Restrictive dermopathy, lethal OMIM#275210Created: 25 Mar 2019, 4:30 p.m.
Core gene . Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 6% of DCM patients) and Pugh (2014) Genet Med 16, 601.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.Created: 24 Mar 2019, 10:20 a.m.
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.
James Eden (Manchester)
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
Bill Newman (Manchester Centre for Genomic Medicine)
Caroline Wright (Genomics England Curator)
Comment when marking as ready: On Manchester diagnostic panelCreated: 14 Feb 2016, 4:18 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- South West GLH
- Illumina TruGenome Clinical Sequencing Services
- London South GLH
- North West GLH
- Expert list
- Emory Genetics Laboratory
- South West GLH
- London South GLH
- North West GLH
- Phenotypes
-
- Muscular dystrophy, congenital (613205)
- Malouf syndrome (212112)
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350)
- Heart-hand syndrome, Slovenian type (610140)
- Hutchinson-Gilford progeria (176670)
- Cardiomyopathy, dilated, 1A (115200)
- Restrictive dermopathy, lethal (275210)
- Lipodystrophy, familial partial, type 2 (151660)
- Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516)
- Charcot-Marie-Tooth disease, type 2B1 (605588)
- Mandibuloacral dysplasia (248370)
- Cardiomyopathy, dilated, 1A
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Progressive cardiac conduction disease
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Skeletal dysplasia
- Proteinuric renal disease
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Intellectual disability
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Fetal anomalies
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Clefting
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Familial diabetes
History Filter Activity
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: LMNA were set to 20186049; 27532257
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: lmna has been classified as Green List (High Evidence).
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 Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LMNA were set to 20186049; 27532257 Phenotypes for gene: LMNA were set to Muscular dystrophy, congenital (613205); Malouf syndrome (212112); Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350); Heart-hand syndrome, Slovenian type (610140); Hutchinson-Gilford progeria (176670); Cardiomyopathy, dilated, 1A (115200); Restrictive dermopathy, lethal (275210); Lipodystrophy, familial partial, type 2 (151660); Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516); Charcot-Marie-Tooth disease, type 2B1 (605588); Mandibuloacral dysplasia (248370); Cardiomyopathy, dilated, 1A