Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

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 1 panel

3 reviews

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#615974:?Deafness, autosomal recessive 102[Deafness, prelingual, profound (affects all frequencies)]

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from OMIM and expert
Created: 1 Feb 2016, 4:55 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Only 1 family but good functional evidence. I would want to know about a Tier 1 variant in this gene.
Created: 19 Oct 2015, 6:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Deafness, autosomal recessive 102, 615974
  • Deafness, prelingual, profound (affects all frequencies)
OMIM
600206
Clinvar variants
Variants in EPS8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for EPS8 were set to ?Deafness, autosomal recessive 102, 615974; Deafness, prelingual, profound (affects all frequencies)

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for EPS8 were set to PMID: 10499589; 11099046; 11185075; 12620401; 14565974; 15558031; 17018287; 21236676; 21526224; 24741995; 8084614; 8404850

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for EPS8 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EPS8 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EPS8 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert