Progressive cardiac conduction disease
Gene: LMNA
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
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
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
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
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.
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
Publications for gene: LMNA were set to
Phenotypes for gene: LMNA were changed from Laminopathy-associated AV conduction block to Laminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465
Source Expert Review Green was added to LMNA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: lmna has been classified as Amber List (Moderate Evidence).
Source South West GLH was added to LMNA.
Source London South GLH was added to LMNA.
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