TP53BP2 was first reported in relation to autosomal dominant primary open angle glaucoma in 2018 (Michale, et al., PMID: 28150229). Primary open angle glaucoma is characterized by a loss of retinal ganglion cells, visual field defects, and cupping of the optic disc.
This curation includes one missense variant reported in one proband in one publication (PMID: 28150229). This proband was also reported to have a variant in the MAPKAPK2 gene, and group members were therefore unable to conclusively confirm the cause of the phenotype within this proband.
This gene-disease association is not supported by any experimental evidence. The TP53BP2 gene is expressed in the human cornea (PMID: 11709013), and its gene product reportedly interacts with components of apoptosis pathways and may regulate cell cycle progression (PMID: 8668206), but the relevance of this evidence to primary open-angle glaucoma is not yet clear.
In summary, the gene-disease relationship between TP53BP2 and primary open angle glaucoma is classified as disputed. This classification was approved by the ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel on May 18th, 2023.
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.