Gene Information

TMEM43

transmembrane protein 43 [Source:HGNC Symbol;Acc:HGNC:28472]

protein_codingChromosome 3ENSG00000170876

Overview

TMEM43 variants are associated with 4 diseases including familial isolated arrhythmogenic ventricular dysplasia, biventricular form and autosomal dominant Emery-Dreifuss muscular dystrophy and 2 others, with 27 documented clinical phenotypes.

Associated Diseases

The TMEM43 gene is associated with 4 medical conditions, including:

familial isolated arrhythmogenic ventricular dysplasia, biventricular form

MONDO:0017402

autosomal dominant Emery-Dreifuss muscular dystrophy

MONDO:0020336

familial isolated arrhythmogenic ventricular dysplasia, right dominant form

MONDO:0017403

familial isolated arrhythmogenic ventricular dysplasia, left dominant form

MONDO:0017401

Clinical Phenotypes

Research has identified 27 phenotypic features associated with TMEM43 variants:

Autosomal dominant inheritance

HP:0000006

Abnormal speech discrimination

HP:0001963

Sudden cardiac death

HP:0001645

Chest pain

HP:0100749

Autosomal dominant inheritance

HP:0000006

Skeletal muscle atrophy

HP:0003202

Congestive heart failure

HP:0001635

Right ventricular cardiomyopathy

HP:0011663

Young adult onset

HP:0011462

Neck muscle weakness

HP:0000467

Slowly progressive

HP:0003677

Bradycardia

HP:0001662

Proximal muscle weakness

HP:0003701

Muscular dystrophy

HP:0003560

Dyskinesia

HP:0100660

View all

ClinVar Variants

ClinVar contains 10 variants associated with TMEM43. Below are some notable variants:

NM_024334.3(TMEM43):c.986T>C (p.Ile329Thr)

Uncertain significance

VCV004527068