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.

Update Notice

The data in the Fanconi Anemia Mutation Database is currently displayed using Leiden Open Source Variation Database (LOVD v.2.0). This version of the site is open and accessible.

We have now included links to Locus Reference Genomic (LRG) for approved genes (FANCD2, FANCJ, FANCL, FANCN, FANCO are pending approval). 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. 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.

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)

Database Management

Database Curator
Arleen D. Auerbach, 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.2.0)
Dr. Johan T. den Dunnen