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  3. CDH2
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Arrhythmogenic right ventricular cardiomyopathy

Gene: CDH2

Amber List (moderate evidence)
CDH2 (cadherin 2)
EnsemblGeneIds (GRCh38): ENSG00000170558
EnsemblGeneIds (GRCh37): ENSG00000170558
OMIM: 114020, Gene2Phenotype
CDH2 is in 9 panels

4 reviews

Zornitza Stark (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.
Created: 3 Aug 2020, 7:11 a.m. | Last Modified: 3 Aug 2020, 7:11 a.m.
Panel Version: 2.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 3 Aug 2020, 7:11 a.m.
Last Modified: 3 Aug 2020, 7:11 a.m.
Panel version: 2.6

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
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

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 10:46 a.m. | Last Modified: 3 Mar 2022, 10:46 a.m.
Panel Version: 2.15
Tagged with "for-review" for the specialist group to review whether this gene should remain Green.
Created: 25 Aug 2020, 1 p.m. | Last Modified: 25 Aug 2020, 1 p.m.
Panel Version: 2.9
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
Created: 2 Dec 2019, 1:28 p.m.
Last Modified: 2 Dec 2019, 1:28 p.m.
Panel version: 2.15

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
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 Amber
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, familial, 14, 618920
OMIM
114020
Clinvar variants
Variants in CDH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 2

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: CDH2.

3 Mar 2022, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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

25 Aug 2020, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: CDH2.

4 Aug 2020, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CDH2 were changed from to Arrhythmogenic right ventricular dysplasia, familial, 14, 618920

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