Paediatric or syndromic cardiomyopathy
Gene: CDH2EnsemblGeneIds (GRCh38): ENSG00000170558
EnsemblGeneIds (GRCh37): ENSG00000170558
OMIM: 114020, Gene2Phenotype
CDH2 is in 9 panels
1 review
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Sources: Expert listCreated: 9 Dec 2019, 2:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cdh2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: CDH2 was added gene: CDH2 was added to Cardiomyopathies - including childhood onset. Sources: Expert list Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: CDH2 was set to GREEN