Dear GEGC members,

We really appreciate your interests in participating and helping the effort of our X-linked IRD gene variant curation expert panel (VCEP). In coordinating with the ClinGen Ocular Clinical Domain Working Group committee, we have recently established a new VCEP that focuses on developing disease and gene specifications and curating expert assessment of variants in the seven X-linked IRD genes, including RPGR, CHM, RS1, RP2, OFD1, NDP, and CACNA1F. One of the major goals of the VCEP is to perform variant curation in the seven X-linked IRD gene according to the ACMG guidelines.

To facilitate the curation effort, we would like to reached out to you and ask you to share molecular diagnosis data for patients carrying mutations in X-linked IRD genes that you have collected. Currently, since most current participating groups are from US and Europe, we would love to include groups from across the world, particularly groups from Asia, Africa and South America. We only intend to collect the molecular information of the patients without the need to access any personal information. All patients should be de-identified and only pathogenic mutations in these seven genes are needed.

I have attached an VariantInfo.xlsx detailed the information we would need from you.

If you have any questions, please do not hesitate to contact me directly.

Best regards,

Rui Chen, Ph.D.
Professor
HGSC, Department of Molecular and Human Genetics, Baylor College of Medicine
Email ruichen@bcm.edu
Phone (713) 798-5194