IFIH1 Chromosome 2

Interferon induced with helicase C domain 1
124 variants 124 Health Risk

Upload your DNA to see your personal genotypes for variants in IFIH1.

What This Gene Does
IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria infection. In addition to its protective role in antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020]
Gene Info
Gene Group
"Caspase recruitment domain containing|RIG-I RNA sensor family"
Locus Type
gene with protein product
Location
2q24.2
Ensembl
ENSG00000115267
Associated Conditions (52)
Singleton-Merten syndrome 1
Aicardi-Goutieres syndrome 7
Inborn genetic diseases
Immunodeficiency 95
Familial cancer of breast
Basal ganglia calcification
idiopathic
childhood-onset
IFIH1-related disorder
IFIH1-related immunodeficiency
See cases
Multisystem inflammatory syndrome in children
Susceptibility to severe COVID-19
Uterine corpus endometrial carcinoma
Sarcoma
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Nonpapillary renal cell carcinoma
Lymphoma
Uterine carcinosarcoma
+32 more conditions
Key Variants
RS1057520076
Conflicting classifications of pathogenicity
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
Health Risk
RS1323841528
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
Health Risk
RS1373494663
Conflicting classifications of pathogenicity
Inborn genetic diseases, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
Health Risk
RS138611889
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
Health Risk
RS139714761
Conflicting classifications of pathogenicity
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
Health Risk
RS142348767
Conflicting classifications of pathogenicity
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
Health Risk
RS144455277
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Immunodeficiency 95
Health Risk
RS145641024
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Familial cancer of breast
Health Risk
RS1466828817
Conflicting classifications of pathogenicity
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
Health Risk
RS147278787
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Basal ganglia calcification
Health Risk
RS148369169
Conflicting classifications of pathogenicity
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Immunodeficiency 95
Health Risk
RS150317197
Conflicting classifications of pathogenicity
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, IFIH1-related immunodeficiency
Health Risk
All Variants (124)
RSID Category Clinical Significance Conditions
RS1238832404 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS138373022 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS1553696482 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS1559810905 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS1576219706 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS1576222015 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS1576222803 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS1576224269 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS1576226604 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS1576226728 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS1576229572 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS2105197765 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS587777445 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS587777447 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS587777448 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS587777449 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS587777575 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS587777576 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS753383954 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS753599401 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS765887304 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS774958328 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS878853066 Health Risk Pathogenic —
RS587777446 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 7, 7 conditions, Singleton-Merten syndrome 1
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