EYA1

Chr 8AD

EYA transcriptional coactivator and phosphatase 1

Also known as: BOP, BOR, BOS1, OFC1, OTFCS

NCBI Gene: 2138 ENSG00000104313 UniProt: Q99502 OMIM: 601653

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Otofaciocervical syndromeMIM #166780

Anterior segment anomalies with or without cataractMIM #602588

Branchiootic syndrome 1MIM #602588

Branchiootorenal syndrome 1, with or without cataractsMIM #113650

Clinical highlights

Gene-disease validity (ClinGen)

branchio-oto-renal syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.33

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — EYA1