We are continually contributing patients to ongoing studies on already known rare diseases genes to better understand the phenotypic spectrum. This enables a better understanding of genotype phenotype correlations and is the ground work for a better understanding of the underlying pathomechanisms and developing possible future treatment options. In case you are running such a study on a known disease gene, you can look here to see if we have identified patients in our cohort. We are coninously updating the table. We are also continously uploading the variants to ClinVar, but there is a time lag until variants are online. So please contact us directly to see if we can connect you to the referring physician.
Table of variants with ACMG classification in HUG Leipzig (Excel; PDF).
Contact
Konrad Platzer
Konrad.platzer@medizin.uni-leipzig.de
Rami Jamra
Rami.AbouJamra@medizin.uni-leipzig.de
