Deafness_IsolatedAndComplex
Gene: ESRRB
PMIDs: 18179891, 31389194, 32681043: at least 9 variants reported, 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, 6:55 a.m. | Last Modified: 20 Aug 2020, 6:55 a.m.
Panel Version: 0.374
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 35, MIM#608565
Publications
Gene: esrrb has been classified as Green List (High Evidence).
Phenotypes for gene: ESRRB were changed from to Deafness, autosomal recessive 35, MIM#608565
Publications for gene: ESRRB were set to
Mode of inheritance for gene: ESRRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: ESRRB was added gene: ESRRB was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: ESRRB was set to Unknown