Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations
2014 (English)In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 35, no 9, E2403-E2412 p.Article in journal (Refereed) Published
Hereditary systemic amyloidosis comprises a group of rare monogenic diseases inherited in an autosomal dominant fashion. It is associated with mutations in genes encoding eight different proteins, including transthyretin, apolipoprotein AI, apolipoprotein AII, lysozyme, fibrinogen A alpha-chain, cystatin C, gelsolin and beta-2-microglobulin. With support from the EU FP6 EURAMY project we have designed an online registry of genes and mutations in hereditary amyloidosis including their associated clinical phenotypes, with a view to having a single free online portal for the collection and distribution of this information. Users can search the registry by either mutation, phenotype or authors who have published or submitted mutations. It provides a submission form for reporting newly identified mutations. We also wanted to introduce nomenclature which complies with recommendations set out by Human Genome Variation Society and HUGO Gene Nomenclature Committee for description of new and known genetic variants. We hope this registry would be a useful and convenient tool for the medical and scientific community.
Place, publisher, year, edition, pages
2014. Vol. 35, no 9, E2403-E2412 p.
Hereditary amyloidosis, online registry, amyloidogenic and non-amyloidogenic mutations
IdentifiersURN: urn:nbn:se:uu:diva-232580DOI: 10.1002/humu.22619ISI: 000340557900001OAI: oai:DiVA.org:uu-232580DiVA: diva2:749613