CDH2

cadherin 2
OMIM: 114020, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CDH2 in Malformations of cortical development Level 2: Neurology Version 7.38 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
Amber CDH2 in Arrhythmogenic right ventricular cardiomyopathy Level 2: Cardiology Version 3.15 Latest signed off version: v3.13 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Arrhythmogenic right ventricular dysplasia, familial, 14, 618920
Green CDH2 in Dilated and arrhythmogenic cardiomyopathy Level 2: Cardiology Version 3.13 Latest signed off version: v3.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS
Green CDH2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
Green CDH2 in DDG2P Version 6.426 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
Green CDH2 in Paediatric disorders - additional genes Level 2: Developmental disorders Version 7.35 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
Green CDH2 in Intellectual disability Level 2: Developmental disorders Version 9.304 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
Amber CDH2 in Structural eye disease Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
Green CDH2 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.98 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list