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  2. Deafness_Isolated
  3. EYA1
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Deafness_Isolated

Gene: EYA1

Green List (high evidence)
EYA1 (EYA transcriptional coactivator and phosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000104313
EnsemblGeneIds (GRCh37): ENSG00000104313
OMIM: 601653, Gene2Phenotype
EYA1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, deafness is a prominent part of the phenotype.
Created: 29 Sep 2020, 10:12 a.m. | Last Modified: 29 Sep 2020, 10:12 a.m.
Panel Version: 0.459

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchiootic syndrome 1, MIM# 602588

Created: 29 Sep 2020, 10:12 a.m.
Last Modified: 29 Sep 2020, 10:12 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.459

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Branchiootic syndrome 1, MIM# 602588
OMIM
601653
Clinvar variants
Variants in EYA1
Penetrance
None
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eya1 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EYA1 were changed from branchiio-oto-renal syndrome to Branchiootic syndrome 1, MIM# 602588

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EYA1 was added gene: EYA1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA1 were set to branchiio-oto-renal syndrome