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FOXN4

Synonyms
-
External resources
Summary
Members of the winged-helix/forkhead family of transcription factors, such as FOXN4, are characterized by a 110-amino acid DNA-binding domain that can fold into a variant of the helix-turn-helix motif consisting of 3 alpha helices flanked by 2 large loops or wings. These transcription factors are involved in a variety of biologic processes as key regulators in development and metabolism (Li et al., 2004

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
63
Likely pathogenic
0
VUS
3,251
Likely benign
499
Benign
0

Patient phenotypes

Proportions of phenotypes among 63 patients carring pathogenic or likely pathogenic variants on FOXN4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
27%
Abnormality of the eye
19%
Growth abnormality
19%
Abnormality of the integument
12.7%
Abnormality of limbs
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the digestive system
9.5%
Abnormality of the ear
9.5%
Abnormality of the genitourinary system
9.5%
Abnormality of blood and blood-forming tissues
7.9%
Abnormality of the immune system
6.3%
Abnormality of the respiratory system
6.3%
Abnormality of the endocrine system
3.2%
Abnormality of the voice
3.2%
Neoplasm
3.2%
Abnormality of prenatal development or birth
1.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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