Hearing lossGene: EPS8L2
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
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
Deafness, autosomal recessive 106, MIM#617637
Variants in this GENE are reported as part of current diagnostic practice
gene: EPS8L2 was added gene: EPS8L2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPS8L2 were set to 26282398; 2391890; 28281779 Phenotypes for gene: EPS8L2 were set to Deafness, autosomal recessive 106, MIM#617637 Review for gene: EPS8L2 was set to GREEN gene: EPS8L2 was marked as current diagnostic