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  3. EYA4
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Cardiomyopathy_Paediatric

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Association with DCM: one family (PMID 10769282) and a zebrafish model, rated as LIMITED by ClinGen. Another individual reported in PMID 30155266 but cardiac phenotype was limited to ECG and echocardiogram abnormalities, individual asymptomatic.
Created: 29 Sep 2020, 10:24 a.m. | Last Modified: 29 Sep 2020, 10:24 a.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1J, MIM# 605362

Publications

Created: 29 Sep 2020, 10:24 a.m.
Last Modified: 29 Sep 2020, 10:24 a.m.
Panel version: 0.11

Details

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

History Filter Activity

29 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EYA4 were changed from Cardiomyopathy, dilated, 1J to Cardiomyopathy, dilated, 1J, MIM# 605362

29 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EYA4 were set to

28 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EYA4 was added gene: EYA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Amber 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