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. The data in the Fanconi Anemia Mutation Database is currently displayed using Leiden Open Source Variation Database (LOVD v.3.0).

We have now included links to recently discovered Fanconi anemia genes XRCC2/FANCU, MAD2L2/REV7/FANCV, and RFWD3/FANCW. These new FA genes will be submitted to Locus Reference Genomic (LRG). LRG sequences provide a stable genomic DNA framework for reporting mutations with a permanent ID and core content that never changes (http://www.lrg-sequence.org/).

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. 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.

Copyright and disclaimer

All contents of this database are protected by local and international copyright laws. The information is submitted for the purpose of sharing genetic and clinical information. Genetic variants listed may or may not have a causal association with disease phenotypes, irrespective of stated classifications or other information presented in the database. All information in this database, including variant classifications, is subject to change and there is no warranty, express or implied, as to its accuracy, completeness, or fitness for a particular purpose. Use of this database and information is subject to User responsibility and discretion. Clinical decisions regarding individual patient care should be carried out in conjunction with a healthcare professional with expertise in the relevant genes and diseases. We do not accept any liability for any injury, loss or damage incurred by use of or reliance on the information provided by this database.

Database submitters are required to adhere to their institution's rules for data sharing, and local and national laws. Personal identifiers should not be submitted. Submitters retain the rights to use and edit their data. Database curators may curate data to ensure that database formatting and quality standards are met. They may also share submitted data with external parties for research purposes or for sharing with other databases.

Genes

*Mutation in RAD51C, is associated with a Fanconi anemia-like syndrome (OMIM: 613390)
**Specific mutations in ERCC4 (XPF) are associated with xeroderma pigmentosum (OMIM: 278760) and XFE progeroid syndrome (OMIM: 610965)
***A dominant mutation in RAD51 is associated with a Fanconi anemia-like syndrome

Database Management

Database Curators
Arleen D. Auerbach, Ph.D.
The Rockefeller University

Agata Smogorzewska, M.D., Ph.D.
The Rockefeller University

Database Manager
Francis Lach
The Rockefeller University

Database hosted by
Leiden University Medical Center, The Netherlands
Leiden Open Source Variation Database (LOVD v.3.0)
Dr. Johan T. den Dunnen