Get in Touch – OI Variant Database
The Osteogenesis Imperfecta Variant Database (OIVD) is the only database worldwide dedicated to OI, in which genetic variants are evaluated by experts in OI molecular genetics. The OI Variant Database has been serving the OI community for decades by providing a reliable source to consult about the pathogenicity of genetic variants.
History of the OI Variant Database
OIVD is the only database dedicated to OI, in which genetic variants are evaluated by experts in OI molecular genetics. As such, it provides reliable information about their molecular significance in combination with the clinical presentation. The OI Variant Database has been serving the OI community for decades by providing a reliable source to consult about the pathogenicity of genetic variants. OIVD owes its creation in 1984 to Prof Raymond Dalgleish who dedicatedly ensured its continuation until his retirement in 2021. Thanks to the critical involvement of OIFE, the curation of the database has recently passed to Amsterdam UMC and is now hosted by the Leiden Open Variation Database (LOVD). OIVD currently contains approximately 3250 unique OI variants in 6290 patients, with complete variant listings until 2018.
Who is responsible for its maintenance?
OIVD is acknowledged worldwide as a powerful tool assisting OI professionals with cases of genetic diagnosis, prediction of disease progression, genotype-phenotype correlations, and translational and clinical research. Considering its enormous significance in the OI field, the curation team of the Human Genetics department in Amsterdam UMC (Dimitra Micha, Gerard Pals, Sonna Stolk, Lidiia Zhytnik, Marelise Eekhoff and Taco van Welzenis (OIFE)) has committed to its maintenance in the future. Raymond Dalgleish remains in an advisory role. Currently, OIVD is being updated with missing OI variants from 2019 to the present, which will also include 930 variants from the database of Amsterdam UMC.
Get in touch!
We want to strongly encourage OI professionals to continue submitting their identified variants in the database to promote consolidation and harmonization in OI variant interpretation: https://lovd.nl/OI-genes
Variant submission can be easily done by registering in OIVD as submitter. We warmly thank the support we have received for this initiative from the Osteogenesis Imperfecta Society Australia.
Dimitra Micha, Amsterdam UMC