1. Panels
  2. Molecular autopsy
  3. EYA4
Genes in panel
Prev Next
STRs in panel
Prev Next

Molecular autopsy

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 4 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 29 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: no stated association with ICC, definitive association with nonsyndromic genetic deafness (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Cardiomyopathy, dilated, 1J (605362); Deafness, autosomal dominant 10 (601316)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • ?Cardiomyopathy, dilated, 1J (605362)
  • Cardiomyopathy, dilated, 1J
  • Deafness, autosomal dominant 10 (601316)
OMIM
603550
Clinvar variants
Variants in EYA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to EYA4.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to EYA4. Added phenotypes ?Cardiomyopathy, dilated, 1J (605362); Deafness, autosomal dominant 10 (601316) for gene: EYA4 Publications for gene EYA4 were changed from to 27532257; 15735644

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: EYA4 was added gene: EYA4 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EYA4 were set to Cardiomyopathy, dilated, 1J