Online registry for mutations in hereditary amyloidosis including nomenclature recommendations

Dorota M. Rowczenio, Islam Noor, Julian D. Gillmore, Helen J. Lachmann, Carol Whelan, Philip N. Hawkins, Laura Obici, Per Westermark, Gilles Grateau, Ashutosh D. Wechalekar

Research output: Contribution to journalArticle

Abstract

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 α-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.

Original languageEnglish
JournalHuman Mutation
Volume35
Issue number9
DOIs
Publication statusPublished - 2014

Fingerprint

Familial Amyloidosis
Terminology
Registries
Mutation
Gelsolin
Apolipoprotein A-II
Genes
Phenotype
Cystatin C
beta 2-Microglobulin
Prealbumin
Information Dissemination
Apolipoprotein A-I
Human Genome
Muramidase
Rare Diseases
Fibrinogen
Proteins

Keywords

  • Amyloidogenic and non-amyloidogenic mutations
  • Hereditary amyloidosis
  • Online registry

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Medicine(all)

Cite this

Rowczenio, D. M., Noor, I., Gillmore, J. D., Lachmann, H. J., Whelan, C., Hawkins, P. N., ... Wechalekar, A. D. (2014). Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Human Mutation, 35(9). https://doi.org/10.1002/humu.22619

Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. / Rowczenio, Dorota M.; Noor, Islam; Gillmore, Julian D.; Lachmann, Helen J.; Whelan, Carol; Hawkins, Philip N.; Obici, Laura; Westermark, Per; Grateau, Gilles; Wechalekar, Ashutosh D.

In: Human Mutation, Vol. 35, No. 9, 2014.

Research output: Contribution to journalArticle

Rowczenio, DM, Noor, I, Gillmore, JD, Lachmann, HJ, Whelan, C, Hawkins, PN, Obici, L, Westermark, P, Grateau, G & Wechalekar, AD 2014, 'Online registry for mutations in hereditary amyloidosis including nomenclature recommendations', Human Mutation, vol. 35, no. 9. https://doi.org/10.1002/humu.22619
Rowczenio, Dorota M. ; Noor, Islam ; Gillmore, Julian D. ; Lachmann, Helen J. ; Whelan, Carol ; Hawkins, Philip N. ; Obici, Laura ; Westermark, Per ; Grateau, Gilles ; Wechalekar, Ashutosh D. / Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. In: Human Mutation. 2014 ; Vol. 35, No. 9.
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