Genomics England
GMS Panels
Panels
Genes and Entities

DBR1

debranching RNA lariats 1
OMIM: 607024
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DBR1 deficiency, Defects in intrinsic and innate immunity, HSE of the brainstem. Other viral infections of the brainstem