DEAFNESS VARIATION DATABASE

What's new?

We are very excited to announce the release of DVD v8.0! With this release, we have modified our list of genes to be consistent with the newest version of our OtoSCOPE® genetic testing platform.

Below is a list of changes we made for this release.

Version 8.0 changes

  • Genes added: ATP6V1B1, CD164, CDC14A, EPS8L2, FGF3, FGFR1, FGFR2, GATA3, KITLG, LOXL3, MCM2, MET, PEX1, PEX6, ROR1, S1PR2, TBX1
  • More variants have been manually-curated by the MORL
  • A new downloadable version of the DVD is now available here
  • Version 7.0 changes

  • Genes added: C10orf2, CISD2, COL4A3, COL4A4, COL4A5, COL4A6, DCDC2, EDN3, EDNRB, FAM65B, MITF, MT-TL1, MT-TS1, NARS2, NLRP3, OPA1, OSBPL2, PAX3, POLR1C, POLR1D, SLITRK6, SNAI2, SOX10, TCOF1, TECTB, TMEM132E
  • Genes removed: CATSPER2, CRYL1, GTPBP3, MIR182, MIR183, MTO1, TFB1M, TRMU
  • Minor allele frequencies from ExAC are now included
  • Minor allele frequencies from 1000 Genomes have been updated from Phase 1 to Phase 3
  • ClinVar annotations have been updated to the March 1, 2016 release
  • dbSNP rs IDs have been updated from Build 142 to Build 146
  • Prediction data have been updated from dbNSFP v2.1 to dbNSFP v3.0
  • A downloadable version of the DVD is now available here
  • More data from our in-house OtoDB have been curated and added
  • We have added more information on variant classifications and the nomenclature we use for the DVD