Arrhythmogenic right ventricular cardiomyopathy
Gene: CTNNA3
Arrhythmogenic right ventricular dysplasia, familial, 13 (615616)Created: 25 Mar 2019, 4:30 p.m.
High rate of truncating variants in general population. Only a couple of reports assoc LQT and ARVC (but no real evidence). Only weak Class 3s reported at BGL. Low penetrance: 30092956Created: 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
No convincing segregation described. High rate of truncating sequence mutations (~1 in 1000 individuals) and CNVs (~1 in 130 individuals) in the general population.Created: 6 Jan 2016, 5:12 p.m.
Source South West GLH was added to CTNNA3. Mode of inheritance for gene CTNNA3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
CTNNA3 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
CTNNA3 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Expert list,Radboud University Medical Center, Nijmegen