Monogenic hearing loss
Gene: ESRRBEnsemblGeneIds (GRCh38): ENSG00000119715
EnsemblGeneIds (GRCh37): ENSG00000119715
OMIM: 602167, Gene2Phenotype
ESRRB is in 1 panel
5 reviews
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:45 p.m.
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
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]
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:17 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Nonsyndromic Hearing Loss, Recessive
- Deafness, autosomal recessive 35, 608565
- hearing loss
- OMIM
- 602167
- Clinvar variants
- Variants in ESRRB
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ESRRB were set to Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 35, 608565; hearing loss
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ESRRB were set to PMID:12529709; 18179891; 22902501; 3267207; 9285590; 9344655
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ESRRB was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ESRRB was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ESRRB was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ESRRB was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)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