The WBP2 gene was reported in association with autosomal recessive nonsyndromic hearing loss (ARNSHL) in 2016 (Buniello et al.) based on observations of three missense variants in three probands with NSHL. However, insufficient evidence for pathogenicity of any of the three variants was presented and so none of the human evidence was scored in the ClinGen framework. The gene was shown to be expressed in mouse inner ear tissue and a mouse model with a homozygous knockout of the WBP2 gene showed progressive, later-onset HL compared to their wildtype littermates (Buniello et al. 2016). In summary, although the mouse model suggests that the WBP2 gene is a strong candidate for human hearing loss, none of the human cases presented to date have evidence to implicate WBP2 and therefore the final conclusion is limited in the ClinGen gene-disease validity framework. This classification was approved by the ClinGen Hearing Loss Working Group on 11/20/2018.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.