Arrhythmogenic right ventricular cardiomyopathy
Gene: LMNA
Submitted on behalf of the GMS Cardiology specialist group. Promoted from Red to Green. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 1:28 p.m. | Last Modified: 2 Dec 2019, 1:28 p.m.
Panel Version: 1.45
On CGGL Royal Brompton ACM panel. Definitive DCM/Laminopathy. On this panel due to high burden of arrhythmia and conduction defects.Created: 18 Sep 2019, 10:40 p.m. | Last Modified: 18 Sep 2019, 10:40 p.m.
Panel Version: 1.36
Phenotypes
LMNA-related DCM
Variants in this GENE are reported as part of current diagnostic practice
Cardiomyopathy, dilated, 1A (115200) and othersCreated: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene. Few patients on HGMD with DM variant and ARVC. Pubmed: 22199124 (LMNA variants mimic ARVC, some segregation. 4 families with ARVC and LMNA), 23684604. Genetic screening for LMNA gene is important for ARVC patients, particularly in patients with bradycardia (26620845) - 2 unrelated probands identified with LVNC variant - first LMNA mutation p.M1K was detected in a 62-year-old male proband, while the second mutation p.W514X was found in a 70-year-old male proband.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.
Publications for gene: LMNA were set to
Phenotypes for gene: LMNA were changed from to LMNA-related DCM
Source Expert Review Green was added to LMNA. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source South West GLH was added to LMNA. Mode of inheritance for gene LMNA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to LMNA.
This gene has been classified as Red List (Low Evidence).
LMNA was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: UKGTN
LMNA was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Expert list