Arrhythmogenic Cardiomyopathy

Gene: FLNC

Green List (high evidence)

PMID: 31627847: Additional 4 null (3x nonsense, 1 ss) variants identified in individuals with ARVC, called pathogenic.
3/4 pedigrees show strong segregation within relatives with diagnosed, borderline or possible ARVC. 1/4 shows poor segregation but is still NMD predicted, includes both unaffected parent (76yo) and children.

Two families reported with truncating variants in this gene and ARVC. Gene is also associated with cardiomyopathy.

Created: 11 Nov 2021, 6:14 a.m. | Last Modified: 11 Nov 2021, 6:14 a.m.

Panel Version: 0.58

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic cardiomyopathy

Publications

• PMID: 31627847
• 31924696

I don't know

Two families reported with truncating variants in this gene and ARVC. Gene is also associated with cardiomyopathy.
Sources: Expert list

Created: 2 Aug 2020, 7:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic right ventricular cardiomyopathy

Publications

• 31924696