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Hearing loss

Gene: ESRRB

Green List (high evidence)

ESRRB (estrogen related receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000119715
EnsemblGeneIds (GRCh37): ENSG00000119715
OMIM: 602167, Gene2Phenotype
ESRRB is in 2 panels

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)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Jun Shen (Harvard Medical School)

Green List (high evidence)

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 confirmed
Created: 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

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ESRRB were set to Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 35, 608565; hearing loss

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ESRRB were set to PMID:12529709; 18179891; 22902501; 3267207; 9285590; 9344655

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ESRRB was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

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

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ESRRB was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

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

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ESRRB was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 3

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

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ESRRB was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 1

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