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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a male, age 24 with seizures, skeletal differences (Madelung deformity, scoliosis, pectus excavatum, club foot), and global developmental delay (read full description).
Nov 19, 2019
ring finger protein 13
The RNF13 gene codes for a protein in the PA-TM-RING protein family. It associates with and promotes activation of IRE1a and is an important mediator of endoplasmic reticulum (ER) stress response and the apoptosis pathway (Edvardson et al., 2019).
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Changes in this gene have also been associated with Epileptic encephalopathy, early infantile, 73 (OMIM 618379).
Interested in learning more about this gene or sharing what you know? Contact us!