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Deafness_IsolatedAndComplex

Gene: EYA4

Green List (high evidence)

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

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

History Filter Activity

29 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eya4 has been classified as Green List (High Evidence).

29 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EYA4 were changed from to Deafness, autosomal dominant 10, MIM# 601316

29 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EYA4 were set to

29 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EYA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EYA4 was added gene: EYA4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: EYA4 was set to Unknown