Genomics England
GMS Panels
Panels
Genes and Entities

DCLRE1C

DNA cross-link repair 1C
OMIM: 605988
PanelMode of inheritanceDetails
1 panel
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, Athabascan type, Severe combined immunodeficiency, Athabascan type, 602450, T-B- SCID, T-B+ SCID, Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation, DCLRE1C (Artemis) deficiency, Atypical Severe Combined Immunodeficiency (Atypical SCID), Combined immunodeficiency, Omenn syndrome, Severe combined immunodeficiency (SCID), Nl NK, radiation sensitive, Immunodeficiencies affecting cellular and humoral immunity