Genomics England
GMS Panels
Panels
Genes and Entities

XIAP

X-linked inhibitor of apoptosis
OMIM: 300079
PanelMode of inheritanceDetails
3 panels
Green
in Haemophagocytic syndrome with absent XIAP expression
R-numbers: R18
Signed-off version 1.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lymphoproliferative syndrome, X-linked, 2, OMIM:300635
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Lymphoproliferative syndrome, X-linked, 2, 300635, Lymphoproliferative syndrome, X-linked, 2 (XLP2), X-linked lymphoproliferative syndrome (XLP), haemophagocytic lymphohistiocytosis, inflammatory bowel disease, splenomegaly, EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia, Diseases of Immune Dysregulation