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Hearing loss

Gene: EPS8L2

Amber List (moderate evidence)

EPS8L2 (EPS8 like 2)
EnsemblGeneIds (GRCh38): ENSG00000177106
EnsemblGeneIds (GRCh37): ENSG00000177106
OMIM: 614988, Gene2Phenotype
EPS8L2 is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal recessive 106, MIM#617637
Tags
for-review
OMIM
614988
Clinvar variants
Variants in EPS8L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2020, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: EPS8L2.

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: eps8l2 has been classified as Amber List (Moderate Evidence).

2 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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