Welcome to the GALNS Mutation Database

GALNS is a molecular testing locus-specific database for N-acetylgalactosamine-6-sulfatase (GALNS) (MPS IVA, Morquio A, Morquio A Syndrome, Mucopolysaccharidosis IVA, OMIM ID #253000)

The purpose of this LSDB is to provide locus-specific information on mutations identified in the gene GALNS. Mutations will be curated as either pathogenic, non-pathogenic or as variants of unknown significance. If the mutation reported in this database has been described in a publication, the pubmed ID will be provided. Unpublished mutations can be submitted, however, will be listed as unpublished mutation. Mutations that you submit will not appear in the database until our curators evaluate them. If you are interested in being a curator please email Sean Mooney(smooney@buckinstitute.org).

The GALNS Mutation Database is maintained by The Mooney Lab at The Buck Institute and by Patricia Francis-Lyon at University of San Francisco.

The database was developed by Sean Mooney, Tal Oron, Robert Atwood, Chaoyi Du, Patricia Francis-Lyon and April Ryles. We thank Amelia Morrone, Meyer Children’s Hospital, Florence, Italy for advice on resource development.