WDR27

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.

Changes in this gene were identified in a UDN participant with a weakened immune system, mitochondrial deficiency, delayed stomach emptying, and multiple congenital anomalies. Research is underway to see if these changes are causing symptoms in this participant (read full description).

Date of Report

Apr 12, 2022

Full Name

WD Repeat Domain 27

Location

Chromosome 6 (6q27)

Function

Encodes WD repeats that form scaffolds for protein-protein interactions important for cell signaling (NCBI).

Database Links

GeneCards: WDR27

NCBI Gene: 253769

UniProtKB/Swiss-Prot: A2RRH5

Clinical Significance

De novo changes in this gene were identified in a UDN participant. Research is underway to see if they are causing symptoms in this participant.

Gene WDR27

Inheritance Pattern Unknown

Position (hg19) chr6:g.170047864C>T & chr6:g.170070759G>T

Transcript NM_182552.5

DNA Change c.1657+5G>A & c.362C>A

Protein Change N/A & p.Ser121Ter

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