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Hearing loss

Gene: WBP2

Amber List (moderate evidence)

WBP2 (WW domain binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000132471
EnsemblGeneIds (GRCh37): ENSG00000132471
OMIM: 606962, Gene2Phenotype
WBP2 is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Changing the rating from grey to Amber. 2 cases plus mouse model but all from one paper. No further evidence since 2016.
Created: 8 Sep 2020, 8:56 p.m. | Last Modified: 8 Sep 2020, 8:56 p.m.
Panel Version: 2.54
Associated with Deafness, autosomal recessive 107 #617639 (AR) in OMIM.

PMID: 26881968 - Buniello et al 2016 - studied hearing in Wbp2 knock-out mice and found progressive high‐frequency hearing loss from 4 weeks of age. They show this is associated with reduced expression of Esr1, Esr2 and Pgr in the cochlea and disruption of expression of key post‐synaptic proteins. Following screening of WBP2 in 8,087 deaf probands and 1,823 unaffected controls in China using targeted next‐generation sequencing, they also identified two unrelated cases of children (5 years and 9 years old) with severe to profound prelingual deafness. Both were compound heterozygous for point mutations resulting in amino acid changes in the WBP2 gene. Each parent was a heterozgyous carrier.
Created: 8 Sep 2020, 8:55 p.m. | Last Modified: 8 Sep 2020, 8:55 p.m.
Panel Version: 2.53

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 107 617639

Publications

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated families identified in a large cohort; supportive animal model data.
Sources: Expert list
Created: 2 Jan 2020, 6 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 107, MIM#617639

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal recessive 107, 617639
OMIM
606962
Clinvar variants
Variants in WBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Sep 2020, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: WBP2 were changed from Deafness, autosomal recessive 107, MIM#617639 to Deafness, autosomal recessive 107, 617639

8 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: wbp2 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: WBP2 was added gene: WBP2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WBP2 were set to 26881968 Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM#617639 Review for gene: WBP2 was set to AMBER