Deafness_Isolated
Gene: EPS8

EPS8 (epidermal growth factor receptor pathway substrate 8)
EnsemblGeneIds (GRCh38): ENSG00000151491
EnsemblGeneIds (GRCh37): ENSG00000151491
OMIM: 600206, Gene2Phenotype
EPS8 is in 5 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Classified as 'Moderate' by ClinGen expert panel. 2 unrelated families and mouse model.
Created: 31 Dec 2019, 12:58 a.m. | Last Modified: 31 Dec 2019, 12:58 a.m.

Panel Version: 0.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nonsyndromic sensorineural deafness

Publications

24741995

Created: 31 Dec 2019, 12:58 a.m.
Last Modified: 31 Dec 2019, 12:58 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.59

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Deafness, autosomal recessive 102, MIM# 615974

OMIM

600206

Clinvar variants

Variants in EPS8

Penetrance

None

Publications

24741995

Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eps8 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EPS8 was added gene: EPS8 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPS8 were set to 24741995 Phenotypes for gene: EPS8 were set to Deafness, autosomal recessive 102, MIM# 615974

Deafness_Isolated Gene: EPS8