Anterior segment anomalies and cataract: genes and variants
Anterior segment anomalies and cataract is linked to 1 analyzed protein (EYA1). 3 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 Anterior segment anomalies and cataract
EYA1: Protein phosphatase EYA1
It functions as a transcriptional coactivator and phosphatase in developmental programs that form the ear, kidney, and craniofacial structures. Haploinsufficiency causes branchio-oto-renal spectrum disorders with hearing loss, branchial anomalies, and variable renal malformations.
3 disease-causing and 0 uncertain variants in EYA1 are linked to Anterior segment anomalies and cataract.
Known disease-causing variants in Anterior segment anomalies and cataract
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| EYA1 R425G | 425 | Disease-causing | |
| EYA1 R547G | 547 | Disease-causing | |
| EYA1 R540G | 540 | Disease-causing |
Same protein, different disease
- Branchiootorenal syndrome 1 is also caused by EYA1 variants; they fall mostly in different places as the Anterior segment anomalies and cataract variants (5 disease-causing).
- Melnick-Fraser syndrome is also caused by EYA1 variants; they fall mostly in different places as the Anterior segment anomalies and cataract variants (4 disease-causing).
- Rare genetic deafness is also caused by EYA1 variants; they fall mostly in different places as the Anterior segment anomalies and cataract variants (3 disease-causing).
Diseases related to Anterior segment anomalies and cataract
- Rare genetic deafness, also linked to EYA1
- Branchiootic syndrome, also linked to EYA1
- Melnick-Fraser syndrome, also linked to EYA1
- Branchiootorenal syndrome 1, also linked to EYA1
- Otofaciocervical syndrome, also linked to EYA1
Frequently asked questions
Which genes are linked to Anterior segment anomalies and cataract?
In CATVariant, Anterior segment anomalies and cataract is linked to 1 analyzed protein: EYA1 (Protein phosphatase EYA1).
How many genetic variants are linked to Anterior segment anomalies and cataract?
3 variants: 3 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 Anterior segment anomalies and cataract 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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