Clinical Domain Working Groups

The Congenital Disorders of Glycosylation (CDG) GCEP will use the ClinGen Gene-Disease Clinical Validity framework to assess clinical validity for genes involved in disorders of glycosylation including other genes related to or considered secondary disorders of glycosylation and those genes related to abnormal patterns of glycosylation. The proposed gene list has been compiled by CDG researchers and physicians affiliated with the Rare Disease Clinical Research Network (RDCRN) Frontiers in CDG Consortium (FCDGC). It was influenced by this publication: PMCID: PMC9021760, PMID: 33340416. Additionally, this list was cross referenced and collated from the larger gene panel currently available from Invitae. Additional genes involved in glycosylation may be added in the future, as this is a quickly and rapidly expanding field. All 188 genes on the initial list agreed upon by our experts were searched on the ClinGen website to determine if gene-disease clinical validity had already been performed and, if so, for which disease entity/entities.