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On this page, you will find information about genetic changes that were 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.
Changes in the TRIP11 gene were identified in a female, age 3 with a skeletal disorder (read full description).
Feb 15, 2019
Thyroid Hormone Receptor Interactor 11
The TRIP11 gene provides instructions for making a protein known as Golgi microtubule-associated protein 210 (GMAP-210), which is believed to be important in the developing skeleton (Genetics Home Reference).
Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!