Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?

Genet Med. 2018 Apr;20(4):400-402. doi: 10.1038/gim.2017.161. Epub 2017 Oct 19.

Author

Anne-Marie Laberge^{1

2}

Affiliations

¹ Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.
² Medical Genetics and Research Center, CHU Sainte-Justine, Montreal, Quebec, Canada.

PMID: 29048418
DOI: 10.1038/gim.2017.161

No abstract available

Publication types

Letter

MeSH terms

Genetic Testing
Global Health
Hemochromatosis / diagnosis*
Hemochromatosis / epidemiology
Hemochromatosis / genetics*
Hemochromatosis Protein / genetics*
Homozygote*
Humans
Mass Screening
Mutation*
Penetrance
Phenotype
Population Surveillance
United States / epidemiology

Substances

HFE protein, human
Hemochromatosis Protein