Coloboma, ocular, autosomal dominant: genes and variants
Coloboma, ocular, autosomal dominant is linked to 1 analyzed protein (PAX6). 5 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 Coloboma, ocular, autosomal dominant
PAX6: Paired box protein Pax-6
It orchestrates developmental gene programs in the eye, forebrain, and pancreatic endocrine system. Haploinsufficiency most classically causes aniridia and can also produce broader ocular, endocrine, and neurodevelopmental abnormalities.
5 disease-causing and 0 uncertain variants in PAX6 are linked to Coloboma, ocular, autosomal dominant.
Where Coloboma, ocular, autosomal dominant variants cluster
- PAX6 Paired (positions 4–130): 3 of 5 disease-causing changes, 2.0× more than its size predicts.
Known disease-causing variants in Coloboma, ocular, autosomal dominant
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PAX6 R26G | 26 | Paired | Disease-causing |
| PAX6 S54R | 54 | Paired | Disease-causing |
| PAX6 F258S | 258 | Homeobox | Disease-causing |
| PAX6 N124K | 124 | Paired | Disease-causing |
| PAX6 V256A | 256 | Homeobox | Disease-causing |
Same protein, different disease
- Aniridia is also caused by PAX6 variants; they fall mostly in different places as the Coloboma, ocular, autosomal dominant variants (60 disease-causing).
- Irido-corneo-trabecular dysgenesis is also caused by PAX6 variants; they fall mostly in different places as the Coloboma, ocular, autosomal dominant variants (40 disease-causing).
- Foveal hypoplasia 1 is also caused by PAX6 variants; they fall mostly in different places as the Coloboma, ocular, autosomal dominant variants (3 disease-causing).
Diseases related to Coloboma, ocular, autosomal dominant
- Aniridia, also linked to PAX6
- Irido-corneo-trabecular dysgenesis, also linked to PAX6
- Foveal hypoplasia 1, also linked to PAX6
- Coloboma of optic nerve, also linked to PAX6
Frequently asked questions
Which genes are linked to Coloboma, ocular, autosomal dominant?
In CATVariant, Coloboma, ocular, autosomal dominant is linked to 1 analyzed protein: PAX6 (Paired box protein Pax-6).
How many genetic variants are linked to Coloboma, ocular, autosomal dominant?
6 variants: 5 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 Coloboma, ocular, autosomal dominant 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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