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Deafness_IsolatedAndComplex

Gene: EPS8

Green List (high evidence)

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

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 102, MIM# 615974
OMIM
600206
Clinvar variants
Variants in EPS8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Dec 2019, 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).

31 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EPS8 were changed from to Deafness, autosomal recessive 102, MIM# 615974

31 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EPS8 were set to

31 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EPS8 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: EPS8 was added gene: EPS8 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: EPS8 was set to Unknown