Fanconi Anemia Mutation Database
The Fanconi Anemia Mutation Database was established in 1998 as a cooperative effort to accelerate the availability of information on mutations in these important cancer-predisposing genes. Although Fanconi anemia is a rare disorder with recessive inheritance, Fanconi anemia genes have been shown to play an important role in both birth defects and cancer.
Note that the display of data in the Fanconi Anemia Mutation Database has changed, as it is now using new software: Leiden Open Source Variation Database (LOVD v.2.0). The new version of the site is open and accessible.
Portions of the Fanconi anemia database are still under construction. We plan to add additional information on pathogenicity, population distribution and phenotypic associations, as in the HGVS Guidelines. In addition, we hope to form an International Fanconi Anemia Mutation Consortium of all laboratories (research and clinical) who will submit genotype and phenotype data and keep the database current. We are interested in ascertaining each individual case of Fanconi anemia not already reported in the database, even if the mutations have already been reported in other patients.
If you are interested in joining this consortium, please review the consortium guidelines and submit the consortium enrollment form. Questions and suggestions regarding the content of the database may be addressed to Arleen D. Auerbach.