Cardiomyopathies - including childhood onsetGene: EYA4
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
?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
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)
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