Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations

• DOI: 10.1002/humu.22619
• Publication Date: 2014-07-17T15:23:18Z
• Authors: Dorota M. Rowczenio; Islam Noor; Julian D. Gillmore; Helen J. Lachmann; Carol Whelan; Philip N. Hawkins; Laura Obici; Per Westermark; Gilles Grateau; Ashutosh D. Wecha...
• Keywords: Search Engine; Internet; 03 medical and health sciences; 0302 clinical medicine; Terminology as Topic; Mutation; Humans; Registries; Amyloidosis, Familial; Software; 3. Good health

Hereditary systemic amyloidosis comprises a group of rare monogenic diseases inherited in an autosomal dominant fashion. It is associated with mutations genes encoding eight different proteins, including transthyretin, apolipoprotein AI, AII, lysozyme, fibrinogen A α-chain, cystatin C, gelsolin and beta-2-microglobulin. With support from the EU FP6 EURAMY project we have designed online registry hereditary their clinical phenotypes, view to having single free portal for collection distribution this information. Users can search by either mutation, phenotype or authors who published submitted mutations. provides submission form reporting newly identified We also wanted introduce nomenclature which complies recommendations set out Human Genome Variation Society HUGO Gene Nomenclature Committee description new known genetic variants. hope would be useful convenient tool medical scientific community.