Arrhythmogenic cardiomyopathy

Gene: CTNNA3

Red List (low evidence)

CTNNA3 (catenin alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000183230
EnsemblGeneIds (GRCh37): ENSG00000183230
OMIM: 607667, Gene2Phenotype
CTNNA3 is in 3 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

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: 30092956
Created: 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

Bill Newman (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, familial, 13,
OMIM
607667
Clinvar variants
Variants in CTNNA3
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CTNNA3. Mode of inheritance for gene CTNNA3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CTNNA3 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CTNNA3 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Expert list,Radboud University Medical Center, Nijmegen