1. Panels
  2. Paediatric or syndromic cardiomyopathy
  3. EYA4
Genes in panel
Prev Next
STRs in panel
Prev Next

Paediatric or syndromic cardiomyopathy

Gene: EYA4

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

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoting from Amber to Red - only single report of a case of DCM preceded by sensorineural hearing loss (possibly) associated with a deletion in EYA4 (PMID: 10769282). No other evidence of link with DCM, only definitive association is with non-syndromic hearing loss. Association is classified as provisional in OMIM and limited in ClinGen.
Created: 1 Aug 2025, 4:06 p.m. | Last Modified: 1 Aug 2025, 4:06 p.m.
Panel Version: 7.11
Created: 1 Aug 2025, 4:06 p.m.
Last Modified: 1 Aug 2025, 4:06 p.m.
Panel version: 7.11

Dmitrijs Rots (Children's Clinical University Hospital)

I don't know

CLinGen: EYA4 was first reported in relation to autosomal dominant in 2000 (Schonberger et al, 2000, PMID: 10769282). Human genetic evidence supporting this gene-disease relationship includes case-level and segregation data. Of note, EYA4-related DCM has been observed with accompanying sensorineural hearing loss. At least 1 unique variant has been reported in humans (Schonberger et al, 2000, PMID: 10769282). This variant segregated with disease in 9 additional family members. This gene-disease association is supported by studies on protein interaction, expression studies and studies in a non-human model organism (Schonberger et al, 2005, PMID: 15735644). In summary, there is limited evidence to support this gene-disease relationship. More evidence is needed to support the relationship of EYA4 with autosomal dominant DCM. This classification was approved by the ClinGen DCM GCEP on November 8, 2019.
Created: 6 Dec 2024, 1:56 p.m. | Last Modified: 6 Dec 2024, 1:56 p.m.
Panel Version: 6.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 6 Dec 2024, 1:56 p.m.
Last Modified: 6 Dec 2024, 1:56 p.m.
Panel version: 6.5

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Created: 2 Dec 2019, 3:58 p.m.
Last Modified: 2 Dec 2019, 3:58 p.m.
Panel version: 0.16

Rebecca Whittington (South West GLH)

Red List (low evidence)

?Cardiomyopathy, dilated, 1J OMIM#605362; Deafness, autosomal dominant 10 OMIM#601316
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 1 x variant assoc with DCM and deafness: Schonberger (2005) Nat Genet 37, 418 - note cardiomyopathy onset in 30s. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Created: 25 Mar 2019, 4:27 p.m.
No evidence of paediatric onset.
Created: 25 Mar 2019, 4:24 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 25 Mar 2019, 4:24 p.m.

Panel version: Imported from Previous cardiomyopathies - including childhood onset panel version 1.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • London South GLH
Phenotypes
  • ?Cardiomyopathy, dilated, 1J, OMIM:605362
OMIM
603550
Clinvar variants
Variants in EYA4
Penetrance
None
Panels with this gene

History Filter Activity

1 Aug 2025, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: eya4 has been classified as Red List (Low Evidence).

1 Aug 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: eya4 has been classified as Amber List (Moderate Evidence).

1 Aug 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EYA4 were changed from Cardiomyopathy, dilated, 1J to ?Cardiomyopathy, dilated, 1J, OMIM:605362

2 Dec 2019, Gel status: 2

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to EYA4. Source Expert Review Amber was added to EYA4. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: EYA4 was added gene: EYA4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA4 were set to Cardiomyopathy, dilated, 1J