Welcome
PhenomeGene (Human Disease Genes website series/HDGW) is an international library of websites for professional information about genes and copy number variances and their clinical consequences.
PhenomeGene is a research initiative of the department of Human Genetics of the Radboud university medical center, Nijmegen, in collaboration with the University of Washington and the University of Adelaide.
The overall goal is to collect and provide the clinical consequences of novel variants in the human genome (gene mutations as well as genomic copy number variants). Each website is moderated by a dedicated team of professionals (clinicians and molecular biologists) and provides up to date (yet mostly unpublished) clinical information about one specific gene or copy number variant. PhenomeGene aims to fill the gap between first publication of several cases and consecutive publication of a large review paper.
Professionals will find relevant information that helps with interpretation of variants and counselling of their patient and will have the opportunity to share clinical data. Patients, parents and care-givers will find useful information on the disease. The platform can also be used by researchers to share functional or other data.
Bert B.A. de Vries and David A. Koolen (Nijmegen, The Netherlands), Evan Eichler (Seattle, US), Jozef Gecz (Adelaide, Australia).
For further information, please contact the PhenomeGene (Human Disease Genes website series) team: info@phenomegene.org
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