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 12 with overgrowth and developmental delay (read full description).
Nov 13, 2017
GNAS complex locus
The GNAS gene codes for an alpha subunit of the guanine nucleotide-binding protein (G protein) (MedlinePlus Genetics).
GeneCards: GC20P058839
MedlinePlus Genetics: GNAS
NCBI Gene: 2778
OMIM: 139320
UniProtKB/Swiss-Prot: Q5JWF2
A change in the GNAS gene was identified in a UDN participant.
Interested in learning more about this gene or sharing what you know? Contact us!