Deafness_Isolated
Gene: ESRRB

ESRRB (estrogen related receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000119715
EnsemblGeneIds (GRCh37): ENSG00000119715
OMIM: 602167, Gene2Phenotype
ESRRB is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 35, MIM#608565

Publications

Created: 20 Aug 2020, 6:55 a.m.
Last Modified: 20 Aug 2020, 6:55 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.374

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

PMIDs: 18179891, 31389194, 32681043: only a few reports (at least 9 variants), commonly in consanguineous families from Turkey and Pakistan. Most are located within the DNA-binding domain, some within the ligand-binding domain. RNA in situ hybridization in mice revealed that Esrrb is expressed during inner-ear development, whereas immunohistochemical analysis showed that ESRRB is present postnatally in the cochlea.
Created: 20 Aug 2020, 6:27 a.m. | Last Modified: 20 Aug 2020, 6:27 a.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 35 MIM#608565

Publications

Created: 20 Aug 2020, 6:27 a.m.
Last Modified: 20 Aug 2020, 6:27 a.m.
Panel version: 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal recessive 35, MIM#608565

OMIM

602167

Clinvar variants

Variants in ESRRB

Penetrance

None

Publications

Panels with this gene