Arrhythmogenic Cardiomyopathy

Gene: TMEM43

reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308) - DEFINITIVE
From PMID 33831308: The TMEM43 (transmembrane protein 43) gene encodes a nuclear membrane protein. One heterozygous pathogenic variant (NM_024334.3(TMEM43):c.1073C>T; p.Ser358Leu) was identified as a founder mutation in a large number of patients and families from Newfoundland, Denmark and Germany and has also been identified in other populations15,22. It is associated with a highly penetrant and arrhythmogenic subtype of ARVC in which biventricular involvement can often be appreciated. Evidence of pathogenicity of other TMEM43 variants remains limited.

Created: 27 May 2021, 5:25 a.m. | Last Modified: 27 May 2021, 5:25 a.m.

Panel Version: 0.47

Phenotypes
ARVC

Publications

• 33831308

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

Green List (high evidence)

DEFINITIVE by ClinGen, multiple families reported, functional data. Common founder variant p.Ser358Leu.

Created: 3 Oct 2020, 9:34 a.m. | Last Modified: 3 Oct 2020, 9:34 a.m.

Panel Version: 0.42

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic right ventricular dysplasia 5, MIM# 604400

Publications

• 18313022
• 21214875
• 23812740
• 22725725
• 24598986
• 29980933