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  3. CDH2
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Dilated Cardiomyopathy

Gene: CDH2

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

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Associated with ARVC. "Limited evidence" for ARVC by ClinGen.

Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of DCM in humans.

Green in PanelApp GEL but did not achieve consensus green rating.
Sources: Literature
Created: 3 Aug 2020, 12:31 a.m. | Last Modified: 3 Aug 2020, 12:31 a.m.
Panel Version: 0.43

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

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

Created: 3 Aug 2020, 12:31 a.m.
Last Modified: 3 Aug 2020, 12:31 a.m.
Panel version: 0.43

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, familial, 14 MIM#618920
OMIM
114020
Clinvar variants
Variants in CDH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdh2 has been classified as Red List (Low Evidence).

3 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdh2 has been classified as Red List (Low Evidence).

3 Aug 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: CDH2 was added gene: CDH2 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH2 were set to 28280076; 15662031 Phenotypes for gene: CDH2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14 MIM#618920 Review for gene: CDH2 was set to RED gene: CDH2 was marked as current diagnostic