Dilated Cardiomyopathy and conduction defects
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
6 reviews
Ivone Leong (Genomics England Curator)
Comment on mode of inheritance: MOI was corrected.Created: 30 Sep 2019, 11:45 a.m. | Last Modified: 30 Sep 2019, 11:45 a.m.
Panel Version: 1.59
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)
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
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
-
- South West GLH
- London South GLH
- North West GLH
- Eligibility statement prior genetic testing
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- 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)
- Hutchinson-Gilford progeria (176670)
- Heart-hand syndrome, Slovenian type (610140)
- Cardiomyopathy, dilated, 1A
- Charcot-Marie-Tooth disease, type 2B1 (605588)
- Restrictive dermopathy, lethal (275210)
- Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516)
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- 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
- Hereditary neuropathy or pain disorder
- Progressive cardiac conduction disease
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Skeletal dysplasia
- Fetal anomalies
- Proteinuric renal disease
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
History Filter Activity
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
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to LMNA. Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to LMNA.
Added New Source, Set Phenotypes, Set publications, Status Update
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 to 27532257; 20186049 Rating Changed from Green List (high evidence) to Green List (high evidence)
Upload gene information
Ellen McDonagh (Genomics England Curator)LMNA was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Eligibility statement prior genetic testing
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list