Monogenic hearing loss
Gene: EPS8EnsemblGeneIds (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 expertCreated: 1 Feb 2016, 4:55 p.m.
Maria Bitner-Glindzicz (UCL)
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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for EPS8 were set to ?Deafness, autosomal recessive 102, 615974; Deafness, prelingual, profound (affects all frequencies)
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
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for EPS8 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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