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NHEJ1

Synonyms
XLF
External resources
Summary
Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
26
Likely pathogenic
0
VUS
2,390
Likely benign
1,071
Benign
0

Patient phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on NHEJ1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
38.5%
Abnormality of the nervous system
19.2%
Abnormality of blood and blood-forming tissues
11.5%
Abnormality of the ear
11.5%
Abnormality of the eye
11.5%
Abnormality of the genitourinary system
7.7%
Abnormality of the immune system
7.7%
Neoplasm
7.7%
Abnormality of head or neck
3.8%
Abnormality of limbs
3.8%
Abnormality of the integument
3.8%
Abnormality of the musculoskeletal system
3.8%
Growth abnormality
3.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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