Arrhythmogenic right ventricular cardiomyopathy
Gene: CDH2
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
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
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
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
Tag for-review was removed from gene: CDH2.
Source Expert Review Amber was added to CDH2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag for-review tag was added to gene: CDH2.
Phenotypes for gene: CDH2 were changed from to Arrhythmogenic right ventricular dysplasia, familial, 14, 618920
Source Expert Review Green was added to CDH2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: CDH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH2 were set to
gene: CDH2 was added gene: CDH2 was added to Arrhythmogenic cardiomyopathy. Sources: Expert list Mode of inheritance for gene: CDH2 was set to Unknown