ZBTB47

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 female, age 2 with seizures, profound global developmental delay, involuntary movements (chorea), and elevated serum pipecolic acid (read full description).

Date of Report

Mar 29, 2019

Full Name

Zinc finger and BTB domain containing 47

Location
Chromosome 3 (3p22.1)


Function

The ZBTB47 gene codes for a protein thought to be involved in the regulation of transcription.

Database Links

GeneCards: GC03P042653

NCBI Gene: 92999 

UniProtKB/Swiss-Prot: Q9UFB7

Clinical Significance

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.

Gene ZBTB47
Inheritance Pattern Autosomal dominant
Position Chr3:42705885
Transcript NM_145166.3
DNA Change c.2039A>G
Protein Change p.E680G
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