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
RS575678322 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Immunodeficiency 95
RS74162074 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Intellectual disability
RS74162075 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Immunodeficiency 95
RS74162084 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
RS74162087 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, IFIH1-related disorder
RS74162090 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS745487097 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Inborn genetic diseases
RS745937740 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS747683934 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
RS747926684 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS748813106 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS749596514 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, IFIH1-related disorder
RS750443621 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Inborn genetic diseases
RS751231371 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Vascular disorder
RS753623939 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, IFIH1-related disorder
RS758206522 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS758387388 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, IFIH1-related disorder
RS759430873 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, See cases
RS762821474 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, IFIH1-related disorder
RS762865950 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS765060493 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Inborn genetic diseases
RS766039450 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Immunodeficiency 95
RS767453829 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Immunodeficiency 95
RS773033563 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Multisystem inflammatory syndrome in children
RS773795297 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS774076578 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS774347658 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
RS774888783 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS775333857 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
RS776280813 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Inborn genetic diseases
RS777051409 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
RS779192156 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Immunodeficiency 95
RS79324540 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Immunodeficiency 95
RS886038669 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS889262310 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS947699715 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
RS967571395 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Immunodeficiency 95
RS987124852 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS999278334 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS1057524257 Health Risk Likely pathogenic —
RS148590996 Health Risk Likely pathogenic Aicardi Goutieres syndrome, Aicardi Goutieres syndrome
RS1576222845 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS1576227162 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS2468960714 Health Risk Likely pathogenic Hereditary predisposition to infections, Hereditary predisposition to infections
RS376048533 Health Risk Likely pathogenic Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, IFIH1-related disorder
RS672601336 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 7, Spastic diplegia, Aicardi-Goutieres syndrome 7
RS764380346 Health Risk Likely pathogenic Immunodeficiency 95, Immunodeficiency 95
RS923064561 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS946205846 Health Risk Likely pathogenic —
RS994007314 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
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