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  2. Arrhythmogenic Cardiomyopathy
  3. CDH2
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Arrhythmogenic Cardiomyopathy

Gene: CDH2

Amber List (moderate evidence)
CDH2 (cadherin 2)
EnsemblGeneIds (GRCh38): ENSG00000170558
EnsemblGeneIds (GRCh37): ENSG00000170558
OMIM: 114020, Gene2Phenotype
CDH2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.
Sources: Expert list
Created: 21 Oct 2022, 7:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920

Created: 21 Oct 2022, 7:41 a.m.

Panel version: 0.62

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920
OMIM
114020
Clinvar variants
Variants in CDH2
Penetrance
None
Panels with this gene

History Filter Activity

21 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdh2 has been classified as Amber List (Moderate Evidence).

21 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdh2 has been classified as Amber List (Moderate Evidence).

21 Oct 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDH2 was added gene: CDH2 was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDH2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920 Review for gene: CDH2 was set to AMBER