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WAS

WASP actin nucleation promoting factor

HCNC Approved Symbol
WAS (HGNC:12731)
Genomic Coordinates
23:48,676,636 - 48,691,427 (Xp11.23)
Synonyms
WASP, WASPA, IMD2, THC
Disease Associations
This gene is associated with the following 4 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Neutropenia, severe congenital, X-linked
300299X-linked recessive
Thrombocytopenia, X-linked
313900X-linked recessive
Thrombocytopenia, X-linked, intermittent
313900X-linked recessive
Wiskott-Aldrich syndrome
301000X-linked recessive

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the WAS gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Thrombocytopenia
 6 (85.7%)
Eczema
 3 (42.9%)
Recurrent infections
 2 (28.6%)
Hydrops fetalis
 
1 (14.3%)
Immunodeficiency
 
1 (14.3%)