Monogenic hearing loss
Gene: EPS8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#615974:?Deafness, autosomal recessive 102[Deafness, prelingual, profound (affects all frequencies)]
Publications
Comment on list classification: Good evidence from OMIM and expertCreated: 1 Feb 2016, 4:55 p.m.
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
Phenotypes for EPS8 were set to ?Deafness, autosomal recessive 102, 615974; Deafness, prelingual, profound (affects all frequencies)
Publications for EPS8 were set to PMID: 10499589; 11099046; 11185075; 12620401; 14565974; 15558031; 17018287; 21236676; 21526224; 24741995; 8084614; 8404850
This gene has been classified as Green List (High Evidence).
Mode of inheritance for EPS8 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
EPS8 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert
EPS8 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert