Branchiootorenal syndrome 1: genes and variants
Branchiootorenal syndrome 1 is linked to 1 analyzed protein (EYA1). 5 DNA variants are known to cause it; 51 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 Branchiootorenal syndrome 1
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.
5 disease-causing and 50 uncertain variants in EYA1 are linked to Branchiootorenal syndrome 1.
Weakly linked (only a few uncertain records): SIX1.
Known disease-causing variants in Branchiootorenal syndrome 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| EYA1 L583P | 583 | Disease-causing (★★) | |
| EYA1 W327R | 327 | Disease-causing (★) | |
| EYA1 G555R | 555 | Disease-causing (★) | |
| EYA1 L580F | 580 | Disease-causing (★) | |
| EYA1 L505R | 505 | Disease-causing |
Same protein, different disease
- Melnick-Fraser syndrome is also caused by EYA1 variants; they fall mostly in different places as the Branchiootorenal syndrome 1 variants (4 disease-causing).
- Anterior segment anomalies and cataract is also caused by EYA1 variants; they fall mostly in different places as the Branchiootorenal syndrome 1 variants (3 disease-causing).
Diseases related to Branchiootorenal syndrome 1
- Rare genetic deafness, also linked to EYA1
- Branchiootic syndrome, also linked to EYA1
- Melnick-Fraser syndrome, also linked to EYA1
- Otofaciocervical syndrome, also linked to EYA1
Frequently asked questions
Which genes are linked to Branchiootorenal syndrome 1?
In CATVariant, Branchiootorenal syndrome 1 is linked to 1 analyzed protein: EYA1 (Protein phosphatase EYA1).
How many genetic variants are linked to Branchiootorenal syndrome 1?
56 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 51 are of uncertain significance or have conflicting reports.
Which uncertain variants in Branchiootorenal syndrome 1 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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