Genomics England
GMS Panels
Panels
Genes and Entities

ISG15

ISG15 ubiquitin-like modifier
OMIM: 147571
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 38, 616126, Defects with susceptibility to mycobacterial infection (MSMD), idiopathic basal ganglia calcification, Susceptibility to mycobacteria, brain calcifications, Defects in Intrinsic and Innate Immunity