Gene/phenotype/disorder under study
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects (620007 #)
Abstract
LGI3 has been published in only eight families to date, but it remains uncurated by ClinGen, and its gene–disease relationship in GenCC is limited. We have identified nine new families harboring six loss-of-function (LOF) variants and three missense variants, the latter of which have been functionally characterized. The manuscript is nearly complete, and we would greatly benefit from additional families to strengthen this study.
Coordinating clinician
Aboulfazl Rad – aboulfazl.rad@arcensus-diagnostics.com
Institution
Arcensus, Rostock, Germany
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No