To facilitate the identification of additional patients with a variant in rarely mutated genes, we listed the genes in which we found a likely causative variant in one patient or family.
How unique is this?
For all variants, ERDC members have scanned their WES data and did not find other patients with a variant in the same gene.
Is homozygosity mapping data being used?
For autosomal recessive variants, homozygosity mapping data of approximately 300 families have been scanned by ERDC members who ruled out the presence of variants in this gene if located in a significantly large homozygous region.
What if I found a variant in one of these genes?
If you also found a promising variant in one of these genes, you can contact the respective groupleader to exchange genetic and clinical data, with the possibility of publishing findings jointly and collaboratively.
What if I found another candidate IRD-associated gene?
If you found another candidate IRD-associated gene and want to share this with ERDC-members, contact Susanne Roosing (This email address is being protected from spambots. You need JavaScript enabled to view it.).
Management Team
Elfride De Baere, MD, PhD Susanne Kohl, PhD Carlo Rivolta, PhD Susanne Roosing, PhD (Chair, Coordinator)
