Agenesis of corpus callosum, cardiac, ocular, and genital syndrome: genes and variants
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome is linked to 1 analyzed protein (CDH2). 3 DNA variants are known to cause it; 2 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
CDH2: Cadherin-2
It mediates calcium-dependent cell-cell adhesion in neural, cardiac, and mesenchymal tissues and helps organize adherens junctions during development. Heterozygous pathogenic variants can cause a syndromic neurodevelopmental disorder with variable cardiac and craniofacial abnormalities.
3 disease-causing and 2 uncertain variants in CDH2 are linked to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome.
Known disease-causing variants in Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CDH2 D597N | 597 | Cadherin 4 | Disease-causing |
| CDH2 D597Y | 597 | Cadherin 4 | Disease-causing |
| CDH2 V162D | 162 | Cadherin 1 | Disease-causing |
Same protein, different disease
- Corpus callosum, agenesis of is also caused by CDH2 variants; they fall mostly in different places as the Agenesis of corpus callosum, cardiac, ocular, and genital syndrome variants (4 disease-causing).
Diseases related to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- Auditory neuropathy, also linked to CDH2
- Corpus callosum, agenesis of, also linked to CDH2
- Arrhythmogenic right ventricular dysplasia, familial, 14, also linked to CDH2
Frequently asked questions
Which genes are linked to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome?
In CATVariant, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome is linked to 1 analyzed protein: CDH2 (Cadherin-2).
How many genetic variants are linked to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome?
11 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Agenesis of corpus callosum, cardiac, ocular, and genital syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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