ZSCAN18

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 SCAN domain containing 18

Location

Chromosome 19 (19q13.43)

Function

The ZSCAN18 gene codes for a protein thought to be involved in the regulation of transcription.

Database Links

GeneCards: ZSCAN18

NCBI Gene: 65982

UniProtKB/Swiss-Prot: Q8TBC5

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 ZSCAN18

Inheritance Pattern Autosomal dominant

Position (hg19) chr19:g.58601451C>T

Transcript NM_023926.4

DNA Change c.184G>A

Protein Change p.Gly62Arg

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