Malformations of cortical development
Gene: CDH2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 3:13 p.m. | Last Modified: 8 Mar 2022, 3:13 p.m.
Panel Version: 2.131
Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag)Created: 1 Dec 2020, 5 p.m. | Last Modified: 1 Dec 2020, 5 p.m.
Panel Version: 2.17
Associated with relevant phenotype in OMIM, and is a 'probable' gene for 'Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects' in Gene2Phenotype.
2 papers (PMID: 31585109 and 31650526) describing 13 unrelated individuals with a neurodevelopmental disorder and variants in the CDH2 gene. Clinical features include GDD/ID (10/12), brain malformations - particularly agenesis of corpus callosum (11/13), cardiovascular abnormalities (9/13), and various eye abnormalities (11/13).
Cdh2 knockout in mice is embryonically lethal. Conditional inactivation of Cdh2 in the cerebral cortex leads to cortical disorganisation and CCA similar to the human phenotypes (PMIDs: 9015265, 17222817).
Sources: LiteratureCreated: 1 Dec 2020, 4:58 p.m. | Last Modified: 1 Dec 2020, 5:05 p.m.
Panel Version: 2.17
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
Publications
Tag for-review was removed from gene: CDH2.
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).
gene: CDH2 was added gene: CDH2 was added to Malformations of cortical development. Sources: Literature for-review tags were added to gene: CDH2. Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH2 were set to 31585109; 31650526 Phenotypes for gene: CDH2 were set to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065 Review for gene: CDH2 was set to GREEN