Progressive cardiac conduction disease
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
6 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. Promoted from Amber to Green as the group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
James Eden (Manchester)
Associated with conduction disease on HGMD and in the literature.Created: 25 Sep 2019, 2:22 p.m. | Last Modified: 25 Sep 2019, 2:22 p.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
LMNA-related dilated cardiomyopathy. Good evidence for isolated conduction diseaseCreated: 23 Sep 2019, 1:05 p.m. | Last Modified: 23 Sep 2019, 1:05 p.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rebecca Whittington (South West GLH)
115200 Cardiomyopathy, dilated, 1ACreated: 25 Mar 2019, 4:30 p.m.
PMID: 27884249; 23912926: reports of individuals with a LMNA variant who had a conduction defect as an isolated finding. Cardiomyopathy phenotype developed late in some (few) relatives as a later feature.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Sources: Expert listCreated: 24 Jan 2019, 12:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Laminopathy-associated AV conduction block
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- South West GLH
- London South GLH
- Phenotypes
-
- Laminopathy-associated AV conduction block
- atrioventricular block (disease), MONDO:0000465
- 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
Ivone Leong (Genomics England Curator)Publications for gene: LMNA were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: LMNA were changed from Laminopathy-associated AV conduction block to Laminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to LMNA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: lmna has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to LMNA.
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to LMNA.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)gene: LMNA was added gene: LMNA was added to Progressive cardiac conduction disease. Sources: Expert list Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMNA were set to Laminopathy-associated AV conduction block Review for gene: LMNA was set to AMBER