3billion
back to listBack to List

NHEJ1

non-homologous end joining factor 1

HCNC Approved Symbol
NHEJ1 (HGNC:25737)
Genomic Coordinates
2:219,069,357 - 219,160,815 (2q35)
Synonyms
Cernunnos, XLF, FLJ12610
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the NHEJ1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Microcephaly
 2 (66.7%)
Short stature
 2 (66.7%)
Developmental delay
 2 (66.7%)
Delayed development
 1 (33.3%)
Myelodysplasia
 1 (33.3%)
NHEJ1 - Gene browser | 3billion