Arrhythmogenic cardiomyopathy

Gene: CDH2

Green List (high evidence)

CDH2 (cadherin 2)
EnsemblGeneIds (GRCh38): ENSG00000170558
EnsemblGeneIds (GRCh37): ENSG00000170558
OMIM: 114020, Gene2Phenotype
CDH2 is in 5 panels

3 reviews

Kate Thomson (Oxford University Hospitals Foundation Trust)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.
Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 1.57

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 1:28 p.m. | Last Modified: 2 Dec 2019, 1:28 p.m.
Panel Version: 1.45

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Was agreed by the GMS Cardiology Specialist Group that this should be Amber rating on a call on Thursday 3rd October 2019.
Created: 3 Oct 2019, 1:25 p.m. | Last Modified: 3 Oct 2019, 1:25 p.m.
Panel Version: 1.40

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
OMIM
114020
Clinvar variants
Variants in CDH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to CDH2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Oct 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

3 Oct 2019, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: CDH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Oct 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: CDH2 were set to

3 Oct 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CDH2 was added gene: CDH2 was added to Arrhythmogenic cardiomyopathy. Sources: Expert list Mode of inheritance for gene: CDH2 was set to Unknown