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IFIH1

interferon induced with helicase C domain 1

HCNC Approved Symbol
IFIH1 (HGNC:18873)
Genomic Coordinates
2:162,267,074 - 162,318,684 (2q24.2)
Synonyms
MDA-5, Hlcd, MDA5, IDDM19
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the IFIH1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Intellectual disability
 2 (28.6%)
Ataxia
 
1 (14.3%)
Epilepsy
 
1 (14.3%)
Growth deficiency
 
1 (14.3%)
Muscle hypotonia
 
1 (14.3%)
IFIH1 - Gene browser | 3billion