Monogenic hearing loss

Gene: EPS8L2

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 1:19 p.m. | Last Modified: 3 Mar 2022, 1:19 p.m.

Panel Version: 2.221

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review

Created: 29 Jun 2020, 12:36 p.m. | Last Modified: 29 Jun 2020, 12:36 p.m.

Panel Version: 2.22

Associated with Deafness autosomal recessive 106 #617637 (AR) in OMIM.

As Zornitza Stark notes there are 2 unrelated families each with a different homozygous frameshift variant in EPS8L2 and a mouse knock out model.

PMID: 26282398 Dahmani  et al 2015 - report 1 consanguineous Algerian family where a homozygous A frame-shift variant (c.1014delC; p.Ser339Alafs*15) was identified in EPS8L2 in 2 affected siblings with progressive hearing loss. The unaffected parents and another sibling were heterozygous for the variant.

PMID: 28281779 Wang et al 2017 - report a homozygous frameshift variant (c.737delC [p. Ala246Alafs*6]) in EPS8L2 in a Pakistani family that cosegregated with deafness.

PMID: 23918390 - Furness et al 2013 - Eps8L2 null-mutant mice exhibit a late-onset, progressive hearing loss that is directly linked to a gradual deterioration in hair bundle morphology.

Created: 28 Jan 2020, 11:53 a.m. | Last Modified: 28 Jan 2020, 11:53 a.m.

Panel Version: 2.4

Green List (high evidence)

Two unrelated families and a mouse model.
Sources: Expert list

Created: 2 Jan 2020, 4:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 106, MIM#617637

Publications

• 26282398
• 2391890
• 28281779

Variants in this GENE are reported as part of current diagnostic practice