Deafness_IsolatedAndComplex
Gene: EYA4

EYA4 (EYA transcriptional coactivator and phosphatase 4)
EnsemblGeneIds (GRCh38): ENSG00000112319
EnsemblGeneIds (GRCh37): ENSG00000112319
OMIM: 603550, Gene2Phenotype
EYA4 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 80 affected individuals reported, animal model. Rated as DEFINITIVE by ClinGen.
Created: 29 Sep 2020, 10:15 a.m. | Last Modified: 29 Sep 2020, 10:15 a.m.

Panel Version: 0.461

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 10, MIM# 601316

Publications

Created: 29 Sep 2020, 10:15 a.m.
Last Modified: 29 Sep 2020, 10:15 a.m.
Panel version: 0.461

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal dominant 10, MIM# 601316

OMIM

603550

Clinvar variants

Variants in EYA4

Penetrance

None

Publications

Panels with this gene