FAS

Fas cell surface death receptor
OMIM: 134637
PanelMode of inheritanceDetails
2 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Class: miscellaneous, Autoimmunie lymphoproliferative syndrome, Lymphoma
R-numbers: R15
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autoimmune lymphoproliferative syndrome type IA, 601859, Autoimmune lymphoproliferative syndrome, type IA (ALPS-FAS), Autoimmune lymphoproliferative syndrome (ALPS), Splenomegaly, adenopathies, autoimmune cytopenias, increased lymphoma risk, IgG and A normal or increased, elevated serum FasL and IL-10, vitamin B12, Diseases of Immune Dysregulation