Home > Gene Browser > IFNK

IFNK

Synonyms
IFNT1, INFE1
External resources
Summary
This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
24
Likely pathogenic
210
VUS
399
Likely benign
137
Benign
0

Patient phenotypes

Proportions of phenotypes among 228 patients carring pathogenic or likely pathogenic variants on IFNK gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.7%
Abnormality of the eye
35.5%
Abnormality of the musculoskeletal system
30.3%
Abnormality of head or neck
21.1%
Abnormality of the integument
15.4%
Abnormality of limbs
14.9%
Growth abnormality
14.5%
Abnormality of the ear
11.8%
Abnormality of the cardiovascular system
8.3%
Abnormality of the genitourinary system
7.9%
Abnormality of the immune system
7%
Abnormality of the digestive system
5.7%
Abnormality of the endocrine system
5.7%
Abnormality of blood and blood-forming tissues
3.1%
Constitutional symptom
3.1%
Neoplasm
3.1%
Abnormality of the breast
2.2%
Abnormality of the voice
1.3%
Abnormal cellular phenotype
0.9%
Abnormality of the respiratory system
0.9%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes