IFIH1

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 the IFIH1 gene were identified in two UDN participants. One participant is a 55-year-old male with wheezing, chronic sinus infections (sinusitis), nasal polyps, chronic fatigue and neuropathy (read full description). The other participant is a 13-year-old female with recurrent skin rashes, immune system abnormalities and muscle pain (read full description).

Date of Report

May 22, 2018

Full Name

interferon induced with helicase C domain 1

Location

Chromosome 2 (2q24.2)

Function

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

Database Links

MedlinePlus Genetics: IFIH1

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 chronic sinusitis, nasal polyps, chronic fatigue, ascending aortic root aneurysm, and neuropathy was found to carry the following genetic changes in the IFIH1 gene:

c.1066C>A/p.Pro356Thr (inheritance pattern: unknown, position: chr2:g.163144674G>T, transcript: NM_022168.4)
c.1879G>T/p.Glu627Ter (inheritance pattern: unknown, position: chr2:g.163134090C>A, transcript: NM_022168.3)

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.Pro356Thr (inheritance pattern: unknown, position: chr2:g.163144674G>T, transcript: NM_022168.3)

Research is underway to see if this change is causing symptoms in this participant.

Gene IFIH1

Inheritance Pattern see gene page

Position (hg19) see gene page

Transcript see gene page

DNA Change see gene page

Protein Change see gene page

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