On this page, you will find information about a genetic change that was identified in a UDN participant. 

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Changes in the DDX1 gene were identified in a female, age 5, with seizures (status epilepticus), developmental regression, and eye abnormalities (strabismus, esotropia) (read full description).

Date of Report

Mar 04, 2020

Full Name

DEAD-box helicase 1

Chromosome 2 (2p24.3)


DEAD box proteins are considered to be RNA helicases. The DDBX1 gene encodes a protein that can affect translation initiation, splicing, and spliceosome and ribosome assembly (Godbout and Squire, 1993).

Database Links

GeneCards: DDX1

NCBI Gene: 1653

OMIM: 601257

UniProtKB/Swiss-Prot: Q92499

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 DDX1
Inheritance Pattern Unknown
Position (hg19) chr2:g.15747320C>G & chr2:g.15736850T>C
Transcript NM_004939.2
DNA Change c.839C>G & c.133-8T>C
Protein Change p.Thr280Arg & N/A
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