Dilated and arrhythmogenic cardiomyopathy
Gene: EYA4EnsemblGeneIds (GRCh38): ENSG00000112319
EnsemblGeneIds (GRCh37): ENSG00000112319
OMIM: 603550, Gene2Phenotype
EYA4 is in 4 panels
7 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. Demoted from Amber to Red as the group has agreed that this gene should be Red on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Is currently on Royal Brompton DCM panel; however only single report of a case of DCM preceded by sensorineural hearing loss (possibly) associated with a deletion in EYA4 (Schonberger, J., et al (2005) Nature Genet. 37: 418-422). No other evidence of link with DCM, only definitive association is with non-syndromic hearing loss.Not enough evidence for a green rating, should be red.Created: 11 Apr 2019, 1:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rebecca Whittington (South West GLH)
?Cardiomyopathy, dilated, 1J OMIM#605362; Deafness, autosomal dominant 10 OMIM#601316Created: 25 Mar 2019, 4:30 p.m.
HGMD: 1 x variant assoc with DCM and deafness: Schonberger (2005) Nat Genet 37, 418. 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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.Created: 24 Mar 2019, 10:18 a.m.
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.
James Eden (Manchester)
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 DCM, 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
Caroline Wright (Genomics England Curator)
Comment when marking as ready: On Manchester diagnostic panelCreated: 14 Feb 2016, 4:17 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.Created: 17 Jan 2019, 5:41 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- UKGTN
- South West GLH
- Radboud University Medical Center, Nijmegen
- Wessex and West Midlands GLH
- Illumina TruGenome Clinical Sequencing Services
- London South GLH
- North West GLH
- Expert list
- South West GLH
- London South GLH
- North West GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- ?Cardiomyopathy, dilated, 1J, OMIM:605362
- OMIM
- 603550
- Clinvar variants
- Variants in EYA4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EYA4 were changed from ?Cardiomyopathy, dilated, 1J (605362); Cardiomyopathy, dilated, 1J; Deafness, autosomal dominant 10 (601316) to ?Cardiomyopathy, dilated, 1J, OMIM:605362
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to EYA4. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: eya4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: EYA4 was added gene: EYA4 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EYA4 were set to 27532257; 15735644 Phenotypes for gene: EYA4 were set to ?Cardiomyopathy, dilated, 1J (605362); Cardiomyopathy, dilated, 1J; Deafness, autosomal dominant 10 (601316)