Monogenic hearing loss
Gene: ESRRBNew review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#608565:Deafness, autosomal recessive 35[Hearing loss, bilateral sensorineural, severe-to-profoundNo abnormalities of vestibular functionTransient otoacoustic emission spectra absent indicating a deficiency of outer hair cell function]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:17 p.m.
Phenotypes for ESRRB were set to Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 35, 608565; hearing loss
Publications for ESRRB were set to PMID:12529709; 18179891; 22902501; 3267207; 9285590; 9344655
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene ESRRB was changed to BIALLELIC, autosomal or pseudoautosomal
ESRRB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene ESRRB was changed to BIALLELIC, autosomal or pseudoautosomal
ESRRB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene ESRRB was changed to BIALLELIC, autosomal or pseudoautosomal
ESRRB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene ESRRB was changed to BIALLELIC, autosomal or pseudoautosomal
ESRRB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
ESRRB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert