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FOXP3

Synonyms
AIID, DIETER, IPEX, JM2, PIDX, XPID
External resources
Summary
The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified.

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
4
Likely pathogenic
0
VUS
1,013
Likely benign
658
Benign
3

Patient phenotypes

Proportions of phenotypes among 2 patients carring pathogenic or likely pathogenic variants on FOXP3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormal cellular phenotype
50%
Abnormality of blood and blood-forming tissues
50%
Abnormality of head or neck
50%
Abnormality of the cardiovascular system
50%
Abnormality of the digestive system
50%
Abnormality of the immune system
50%
Abnormality of the nervous system
50%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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