Arrhythmogenic right ventricular cardiomyopathy
Gene: TMEM43
Submitted on behalf of the GMS Cardiology specialist group. 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, only VUS reported so far. Definitive gene for ARVC according to ClinGen Expert PanelCreated: 18 Sep 2019, 10:35 p.m. | Last Modified: 18 Sep 2019, 10:35 p.m.
Panel Version: 1.36
Phenotypes
Arrhythmogenic right ventricular dysplasia 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Arrhythmogenic right ventricular dysplasia 5 (604400); Emery-Dreifuss muscular dystrophy 7, AD (614302)Created: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene. Listed on HGMDPro assoc with ARVC and DCM - quite strong evidence from segregation etc for ARVC and recommendations to add to panels. Class 3s reported at BGL. Pubmed 26840987. Founder mutation p.S358L - functional evidence. Rare cause of ARVCCreated: 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.
Gene currently tested on Manchester cardiac gene panel. 24 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with arrhythmogenic right ventricular dysplasia 5 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arrhythmogenic right ventricular dysplasia 5 (604400); Emery-Dreifuss muscular dystrophy 7, AD (614302)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: TMEM43 were set to 27532257; 23812740
Source South West GLH was added to TMEM43. Mode of inheritance for gene TMEM43 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to TMEM43.
Source North West GLH was added to TMEM43. Added phenotypes Emery-Dreifuss muscular dystrophy 7, AD (614302); Arrhythmogenic right ventricular dysplasia 5 (604400) for gene: TMEM43 Publications for gene TMEM43 were changed from to 27532257; 23812740 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
TMEM43 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: UKGTN
Model of inheritance for gene TMEM43 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TMEM43 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene TMEM43 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TMEM43 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene TMEM43 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TMEM43 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
TMEM43 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list