Structural eye disease

Gene: CDH2

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.

Created: 8 Mar 2022, 10:32 a.m. | Last Modified: 8 Mar 2022, 10:34 a.m.

Panel Version: 1.113

I don't know

Comment on list classification: Gene added following discussion with Helen Brittain (Genomics England Clinical Team) who indicated this panel may be applicable in view of the ocular abnormalities observed in some individuals with CDH2 variants. However, as the eye phenotypes were diverse, this warrants phenotypic consideration by the GMS team to assess the relevance to this panel (added 'for-review' tag)

Created: 1 Dec 2020, 5:28 p.m. | Last Modified: 1 Dec 2020, 5:28 p.m.

Panel Version: 1.17

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 ocular abnormalities (11/13). Eye phenotype was variable and includes Peters anomaly, glaucoma, cataract, Duane anomaly, strabismus.

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, 5:23 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