mRNA IDs | Primary Information | |
NM_024782.1 | Gene Symbol | NHEJ1 |
Protein Name | Nonhomologous end-joining factor 1 | |
Alternate Names | Cernunnos, FLJ12610, XLF | |
Gene Locus | 2q35 |
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Disease name | Characteristic / Associated features | Category | inheritance type |
Cernunnos deficiency | Microcephaly, intrauterine growth retardation; recurrent infections; increased sensitivity to ionizing radiation; hypogammaglobulinemia; severe T-lymphocytopenia; severe B-lymphocytopenia; mental retardation; proximally placed thumb; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; nephroptosis; decreased T cells; decreased B-cell numbers | Combined T-cell and B-cell immunodeficiencies | Autosomal recessive |