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Deafness_IsolatedAndComplex

Gene: ESRRB

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

History Filter Activity

20 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: esrrb has been classified as Green List (High Evidence).

20 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ESRRB were changed from to Deafness, autosomal recessive 35, MIM#608565

20 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ESRRB were set to

20 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ESRRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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