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RFX5

Synonyms
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External resources
Summary
A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined.

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
1,856
Likely pathogenic
0
VUS
17,331
Likely benign
1,637
Benign
137

Patient phenotypes

Proportions of phenotypes among 1851 patients carring pathogenic or likely pathogenic variants on RFX5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.5%
Abnormality of the musculoskeletal system
32.3%
Abnormality of the cardiovascular system
25.2%
Abnormality of the eye
24.6%
Abnormality of head or neck
22.7%
Abnormality of limbs
14.2%
Abnormality of the ear
14.2%
Growth abnormality
13.2%
Abnormality of the integument
12.8%
Abnormality of the genitourinary system
10.9%
Abnormality of the digestive system
9.5%
Abnormality of the immune system
7.2%
Abnormality of the endocrine system
4.8%
Abnormality of the respiratory system
4.3%
Abnormality of blood and blood-forming tissues
3.8%
Neoplasm
3.2%
Abnormality of prenatal development or birth
3%
Constitutional symptom
1.8%
Abnormal cellular phenotype
1.1%
Abnormality of the breast
0.8%
Abnormality of the voice
0.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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