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Cardiomyopathies - including childhood onset

Gene: EYA4

Amber List (moderate evidence)

EYA4 (EYA transcriptional coactivator and phosphatase 4)
EnsemblGeneIds (GRCh38): ENSG00000112319
EnsemblGeneIds (GRCh37): ENSG00000112319
OMIM: 603550, Gene2Phenotype
EYA4 is in 5 panels

2 reviews

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

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

Details

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

History Filter Activity

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