Genomics England
GMS Panels
Panels
Genes and Entities

LIG1

DNA ligase 1
OMIM: 126391
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined immunodeficiencies with associated or syndromic features, Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity, DNA-ligase 1 ATP-dependent deficiency (LIG1), DNA ligase I deficiency