WDCP

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 short stature, hearing loss, heart differences, gross motor delay, and low muscle tone (read full description). 

Date of Report

Aug 29, 2022

Full Name

WD repeat and coiled coil containing

Location
2p23.3
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Function

Enables kinase binding and involved in protein complex oligomerization (Gaudet et al., 2011; Yokoyama & Miller, 2015).

Database Links

GeneCards: GC02M024032
NCBI Gene: 80304
OMIM: 616234
UniProtKB/Swiss-Prot: Q9H6R7

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene WDCP
Inheritance Pattern Autosomal recessive
Position (hg19) chr2:g.24255765C>A & g.24270183C>T
Transcript NM_025203.2
DNA Change c.1870G>T & c.-19+1G>A
Protein Change p.Asp624Tyr & N/A
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