EYA1
Chr 8ADEYA transcriptional coactivator and phosphatase 1
Also known as: BOP, BOR, BOS1, OFC1, OTFCS
The EYA1 protein functions as both a tyrosine phosphatase that dephosphorylates histone H2AX to promote DNA repair and as a transcriptional coactivator for SIX family proteins during organogenesis. Mutations cause branchiootorenal syndrome, branchiootic syndrome, and anterior segment eye anomalies with or without cataracts, affecting development of the kidneys, ears, branchial arches, and eyes. The gene follows autosomal dominant inheritance and is highly constrained against loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function, dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EYA1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools