On this page, you will find information about genetic changes that were identified in UDN participants. 

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Date of Report

May 22, 2018

Full Name

interferon induced with helicase C domain 1

Chromosome 2 (2q24.2)


The IFIH1 gene provides instructions for making a protein involved in the body’s immune response (Genetics Home Reference).

Database Links

Genetics Home Reference: IFIH1 gene

GeneCards: GC02M162267

NCBI Gene: 64135

OMIM: 606951

UniProtKB/Swiss-Prot: Q9BYX4

Clinical Significance

Changes in this gene were identified in two UDN participants. 

Participant 011, a 55 year old male with wheezing, chronic sinus infections (sinusitis), nasal polyps, chronic fatigue, a bulging, weakened wall of the aortic root (ascending aortic root aneurysm), and neuropathy was found to carry the following genetic changes in the IFIH1 gene: c.1066C>A/p.P356T (position: chr2: 163144674, transcript: NM_022168) and c.1879G>T/p.E627X (position: chr2:163134090, transcript: NM_022168). Clinicians and researchers believe that these genetic changes are causing the participant’s symptoms.

Participant 069, a 13 year old female with recurrent skin rashes, immune system abnormalities (autoimmune hemolytic anemia, antiphospholipid antibody positivity), and muscle pain (myalgia) was found to carry the following genetic change in the IFIH1 gene: c.1066C>A/p.P356T (position: chr2: 163144674, transcript: NM_022168, paternally inherited). Research is underway to see if this change is causing symptoms in this participant.

Gene IFIH1
Inheritance Pattern Unknown
Position see gene page
Transcript see gene page
DNA Change see gene page
Protein Change see gene page
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