Dilated and arrhythmogenic cardiomyopathy

Gene: TMEM43

Green List (high evidence)

Definitive ARVC gene, appropriate for DCM panel due to possible phenotypic overlap

Created: 19 Sep 2019, 10:25 p.m. | Last Modified: 19 Sep 2019, 10:25 p.m.

Panel Version: 0.44

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.

Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.

Panel Version: 0.52

TMEM43 is a green gene on the Arrhythmogenic cardiomyopathy (code: 134, version 1.25). It has been promoted from amber to green in this panel as the GMS Cardiology Specialist Group decided that all green genes that are present on the Arrhythmogenic cardiomyopathy panel should also be green on this panel because of the overlap in clinical presentation.

Created: 4 Sep 2019, 10:51 a.m. | Last Modified: 4 Sep 2019, 10:51 a.m.

Panel Version: 0.37

Green List (high evidence)

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 ARVC

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

I don't know

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.

Green List (high evidence)

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

• 23812740
• 27532257

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Green List (high evidence)