Genomics England
GMS Panels
Panels
Genes and Entities

FADD

Fas associated via death domain
OMIM: 602457
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
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759, ALPS-like disease, functional hyposplenism, invasive pneumococcal disease, para-infectious encephalopathy and hepatopathy, cardiovascular malformations, Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction, Diseases of Immune Dysregulation