EYA1 Chromosome 8
EYA transcriptional coactivator and phosphatase 1
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What This Gene Does
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]
Gene Info
Gene Group
EYA transcriptional coactivator and phosphatases
Locus Type
gene with protein product
Location
8q13.3
Ensembl
ENSG00000104313
Associated Conditions (20)
Branchiootorenal syndrome with cataract
Otofaciocervical syndrome 1
Branchiootic syndrome 1
Branchiootorenal syndrome 1
Inborn genetic diseases
Melnick-Fraser syndrome
EYA1-related disorder
Hearing impairment
Serpentine fibula with polycystic kidney disease
common Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
Renal hypoplasia
Rare genetic deafness
Branchiooculofacial syndrome
Focal segmental glomerulosclerosis
Anterior segment anomalies and cataract
Abnormal anterior chamber morphology
Developmental cataract
Anhydramnios
Bilateral renal agenesis
Hereditary ataxia
Key Variants
RS121909199
Conflicting classifications of pathogenicity
Branchiootorenal syndrome with cataract, Otofaciocervical syndrome 1, Branchiootic syndrome 1
Health Risk
RS1240529273
Conflicting classifications of pathogenicity
Melnick-Fraser syndrome, Branchiootorenal syndrome 1, Branchiootic syndrome 1
Health Risk
RS139194909
Conflicting classifications of pathogenicity
Melnick-Fraser syndrome, Branchiootic syndrome 1, Branchiootorenal syndrome 1
Health Risk
RS141779040
Conflicting classifications of pathogenicity
Otofaciocervical syndrome 1, Branchiootic syndrome 1, Melnick-Fraser syndrome
Health Risk
RS146687496
Conflicting classifications of pathogenicity
Melnick-Fraser syndrome, Inborn genetic diseases, EYA1-related disorder
Health Risk
RS148647933
Conflicting classifications of pathogenicity
Branchiootic syndrome 1, Otofaciocervical syndrome 1, Melnick-Fraser syndrome
Health Risk
RS1819924865
Conflicting classifications of pathogenicity
Melnick-Fraser syndrome, Melnick-Fraser syndrome
Health Risk
RS191838840
Conflicting classifications of pathogenicity
Otofaciocervical syndrome 1, Branchiootic syndrome 1, Branchiootorenal syndrome 1
Health Risk
RS192602787
Conflicting classifications of pathogenicity
Branchiootic syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1
Health Risk
RS199664417
Conflicting classifications of pathogenicity
Branchiootorenal syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1
Health Risk
RS200074362
Conflicting classifications of pathogenicity
Otofaciocervical syndrome 1, Branchiootic syndrome 1, Melnick-Fraser syndrome
Health Risk
RS200923204
Conflicting classifications of pathogenicity
Melnick-Fraser syndrome, Branchiootic syndrome 1, Otofaciocervical syndrome 1
Health Risk
All Variants (165)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS869025180 | Health Risk | Pathogenic | Otofaciocervical syndrome 1, Melnick-Fraser syndrome, Otofaciocervical syndrome 1 |
| RS876657689 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS876657690 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS876657691 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS886039674 | Health Risk | Pathogenic | — |
| RS886042006 | Health Risk | Pathogenic | — |
| RS121909196 | Health Risk | Pathogenic/Likely pathogenic | Branchiootorenal syndrome 1, Rare genetic deafness, Melnick-Fraser syndrome |
| RS1475718221 | Health Risk | Pathogenic/Likely pathogenic | Melnick-Fraser syndrome, Melnick-Fraser syndrome |
| RS1554541834 | Health Risk | Pathogenic/Likely pathogenic | Melnick-Fraser syndrome, Melnick-Fraser syndrome |
| RS1554615511 | Health Risk | Pathogenic/Likely pathogenic | Branchiootorenal syndrome 1, Melnick-Fraser syndrome, Branchiootorenal syndrome 1 |
| RS200164773 | Health Risk | Pathogenic/Likely pathogenic | Melnick-Fraser syndrome, Branchiootorenal syndrome 1, Otofaciocervical syndrome 1 |
| RS2128854635 | Health Risk | Pathogenic/Likely pathogenic | Melnick-Fraser syndrome, Melnick-Fraser syndrome |
| RS2128999627 | Health Risk | Pathogenic/Likely pathogenic | Melnick-Fraser syndrome, Branchiootorenal syndrome 1, Melnick-Fraser syndrome |
| RS2129000663 | Health Risk | Pathogenic/Likely pathogenic | Melnick-Fraser syndrome, Branchiootic syndrome 1, Melnick-Fraser syndrome |
| RS2537297433 | Health Risk | Pathogenic/Likely pathogenic | Melnick-Fraser syndrome, EYA1-related disorder, Hereditary ataxia |