Axon pathfinding, cardiac, ocular and genital defects: genes and variants
Axon pathfinding, cardiac, ocular and genital defects is linked to 1 analyzed protein (CDH2). 4 DNA variants are known to cause it; 0 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 Axon pathfinding, cardiac, ocular and genital defects
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.
4 disease-causing and 0 uncertain variants in CDH2 are linked to Axon pathfinding, cardiac, ocular and genital defects.
Known disease-causing variants in Axon pathfinding, cardiac, ocular and genital defects
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CDH2 D597N | 597 | Cadherin 4 | Disease-causing |
| CDH2 D597Y | 597 | Cadherin 4 | Disease-causing |
| CDH2 N601T | 601 | Cadherin 4 | Disease-causing |
| CDH2 D627G | 627 | Cadherin 5 | Disease-causing |
Diseases related to Axon pathfinding, cardiac, ocular and genital defects
- Auditory neuropathy, also linked to CDH2
- Corpus callosum, agenesis of, also linked to CDH2
- Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, also linked to CDH2
- Arrhythmogenic right ventricular dysplasia, familial, 14, also linked to CDH2
Frequently asked questions
Which genes are linked to Axon pathfinding, cardiac, ocular and genital defects?
In CATVariant, Axon pathfinding, cardiac, ocular and genital defects is linked to 1 analyzed protein: CDH2 (Cadherin-2).
How many genetic variants are linked to Axon pathfinding, cardiac, ocular and genital defects?
4 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Axon pathfinding, cardiac, ocular and genital defects 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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