WAS

Wiskott-Aldrich syndrome
OMIM: 300392
PanelMode of inheritanceDetails
4 panels
R-numbers: R90
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
313900 Thrombocytopenia, X-linked (intermittent), 300299 Neutropenia, severe congenital, X-linked, 313900 Thrombocytopenia, X-linked intermittent, 301000 Wiskott-Aldrich syndrome
R-numbers: R91
Signed-off version 1.29
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
313900 Thrombocytopenia, X-linked, Neutropenia, severe congenital, X-linked, 300299, Thrombocytopenia, X-linked, intermittent 313900, 313900 Thrombocytopenia, Wiskott-Aldrich syndrome, 301000, Thrombocytopenia, X-linked 313900, Thrombocytopenia, X-linked, intermittent, 313900
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Class: BM failure syndrome (typ AR), X-linked neutropenia, Wiskott Adrich Syndrome, lymphoma, MDS, AML, Lymphoma
R-numbers: R15
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Wiskott-Aldrich syndrome, Neutropenia, severe congenital, X-linked, 300299, X-linked thrombocytopenia, Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia with mutations in WASP, Congenital neutropenia, Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis, XL thrombocytopenia is a mild form of WAS, and XL neutropenia is caused by missense mutations in the GTPase binding domain of WASp, Combined immunodeficiencies with associated or syndromic features, Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies, Congenital defects of phagocyte number or function