Paediatric disorders - additional genes

Gene: CDH2

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.

Panel Version: 1.96

Green List (high evidence)

Comment on list classification: Gene added following discussion with Helen Brittain (Genomics England Clinical Team) who indicated this panel is relevant in view of the multiple congenital malformations associated with CDH2 variants.

Tagged 'for-review' as there is sufficient evidence to rate this gene Green at the next GMS panel update.

Created: 1 Dec 2020, 5:14 p.m. | Last Modified: 1 Dec 2020, 5:14 p.m.

Panel Version: 1.67

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: Literature

Created: 1 Dec 2020, 5:10 p.m.

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

• 31585109
• 31650526