Monogenic hearing loss
Gene: EYA4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:46 p.m.
Comment on mode of inheritance: Not on the imprinted gene list.Created: 17 Feb 2016, 2:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#601316:Deafness, autosomal dominant 10[Progressive nonsyndromic sensorineural deafness; Onset second to fifth decade]; #605362:Cardiomyopathy, dilated, 1J
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:22 p.m.
Phenotypes for EYA4 were set to hearing loss; Nonsyndromic Hearing Loss, Dominant; Deafness, autosomal dominant 10, 601316; Cardiomyopathy, dilated, 1J, 605362
Publications for EYA4 were set to PMID: 10769282; 11159937; 15735644; 17567890; 17568404; 18219393; 19561593; 9887327
Mode of inheritance for EYA4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene EYA4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EYA4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene EYA4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EYA4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene EYA4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EYA4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene EYA4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EYA4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
EYA4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert