Genomics England
GMS Panels
Panels
Genes and Entities

NHEJ1

non-homologous end joining factor 1
OMIM: 611290
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291, T-B- SCID, T-B+ SCID, Combined immunodeficiency, Cernunnos/XLF deficiency, Nl NK, radiation sensitive, microcephaly, Immunodeficiencies affecting cellular and humoral immunity
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291