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From: Dr Bryony Braschi [email@example.com]
Many thanks for your feedback about our proposed nomenclature update for the gene currently approved as HFE2. All researchers were supportive of a symbol update to HJV.
Some researchers asked why we have added “BMP co-receptor” to the name.
This to maintain a link between this gene, which is aliased as RGMC, and its paralogs RGMA (repulsive guidance molecule BMP co-receptor a) and RGMB (repulsive guidance molecule BMP co-receptor b). It is a small amount of additional functional information that may be useful to researchers that are not associated with the field that visit our gene reports. It may be that most researchers in the field will choose to refer simply to HJV (hemojuvelin) in their publications.
Therefore the new nomenclature for this gene in human and its orthologs across vertebrates will be:
GENE SYMBOL: HJV
GENE NAME: hemojuvelin BMP co-receptor
SYNONYMS: HFE2, JH, HFE2A, RGMC, HJV, haemojuvelin
We hope you approve of this update and will use, or at least mention the new nomenclature in your future publications.
We would also like to propose a name only update for the gene currently approved as HFE (hemochromatosis). As you may know, the remit of the HGNC has expanded to naming the orthologs of human genes across vertebrates. Therefore, we are very keen to avoid the use of human phenotypes in gene nomenclature wherever possible as they may not be relevant across species. We will of course retain the well used HFE symbol for this gene (HGNC:4886) and the term “hemochromatosis” can of course still be used to refer to the phenotype and will remain in the gene record as a previous name, appearing on the gene symbol report on our site (www.genenames.org).
We therefore plan to make the following nomenclature update for this gene in human and its orthologs across vertebrates:
GENE SYMBOL: HFE
GENE NAME: homeostatic regulator of iron
We intend to go ahead with this, but if you have any serious objections to this then let us know. Please note that if we do not hear from you within the next 14 days then we may assume you approve of this proposal and the nomenclature may be updated as above. Thank you.
Bryony Braschi, PhD
Gene Nomenclature Advisor
HUGO Gene Nomenclature Committee (HGNC)
European Bioinformatics Institute (EMBL-EBI) European Molecular Biology Laboratory Wellcome Genome Campus Hinxton, Cambridgeshire
CB10 1SD, UK
phone: +44 (0)1223 494332
fax: +44 (0)1223 494468
Haemochromatosis Association/Society/Patient group
Haemochromatosis International’s major project, to establish and publish a set of widely supported recommendations for the treatment of haemochromatosis is now complete. This is the result of many months of consultation and consensus with a wide range of the world’s haemochromatosis experts. We believe that this material will be useful for patients and health professionals.
“Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype” was published recently in the journal Hepatology International with free public access. The publication can be downloaded free.
Click here: https://doi.org/10.1007/s12072-018-9855-0