EYA4 was originally curated for DCM by the ClinGen GCEP on 11/08/2019. Evidence of the association of this gene with DCM was re-evaluated using SOP v10 on 02/05/2025. As a result, the reclassification did not change. A summary of the information contributing to the classification of this gene at the time of re-evaluation is summarized herein.
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 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 Dilated Cardiomyopathy Working Group on 02/05/2025 (SOP Version 10).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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