TMEM43 Chromosome 3
Transmembrane protein 43
Upload your DNA to see your personal genotypes for variants in TMEM43.
What This Gene Does
This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]
Associated Conditions (19)
Arrhythmogenic right ventricular dysplasia 5
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy
TMEM43-related disorder
Emery-Dreifuss muscular dystrophy 7
autosomal dominant
Auditory neuropathy
autosomal dominant 3
Cervical cancer
Arrhythmogenic right ventricular cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Long QT syndrome
Thyroid cancer
nonmedullary
1
Squamous cell lung carcinoma
Familial isolated arrhythmogenic right ventricular dysplasia
Primary dilated cardiomyopathy
Key Variants
RS1046932119
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1057524625
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS116911972
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
Health Risk
RS1212663056
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1247757810
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
Health Risk
RS1281893880
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
Health Risk
RS1285837389
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, TMEM43-related disorder
Health Risk
RS1320848788
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
Health Risk
RS1363776385
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 5, Arrhythmogenic right ventricular dysplasia 5
Health Risk
RS1365389365
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
Health Risk
RS138182276
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
Health Risk
RS1398278496
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
Health Risk
All Variants (107)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS794729179 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 5, Arrhythmogenic right ventricular dysplasia 5 |
| RS886058030 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype |
| RS914027156 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5 |
| RS930770110 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Cardiomyopathy |
| RS1304467714 | Health Risk | Likely pathogenic | Arrhythmogenic right ventricular dysplasia 5, Arrhythmogenic right ventricular dysplasia 5 |
| RS2470179437 | Health Risk | Likely pathogenic | Emery-Dreifuss muscular dystrophy 7, autosomal dominant, Emery-Dreifuss muscular dystrophy 7 |
| RS63750743 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 5, Arrhythmogenic right ventricular cardiomyopathy, Familial isolated arrhythmogenic right ventricular dysplasia |