WAS Chromosome X
WASP actin nucleation promoting factor
Upload your DNA to see your personal genotypes for variants in WAS.
What This Gene Does
The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Wiskott-Aldrich Syndrome protein family
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000015285
Associated Conditions (17)
Inborn genetic diseases
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
WAS-related disorder
WISKOTT-ALDRICH SYNDROME
ATTENUATED
Thrombocytopenia
THROMBOCYTOPENIA
X-LINKED
INTERMITTENT
Abnormality of blood and blood-forming tissues
Colon adenocarcinoma
Thyroid cancer
nonmedullary
1
X-Linked Neutropenia
Key Variants
RS1186676831
Conflicting classifications of pathogenicity
Inborn genetic diseases, Thrombocytopenia 1, Wiskott-Aldrich syndrome
Health Risk
RS1307143057
Conflicting classifications of pathogenicity
X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome, Thrombocytopenia 1
Health Risk
RS139857045
Conflicting classifications of pathogenicity
Thrombocytopenia 1, Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
Health Risk
RS1409607754
Conflicting classifications of pathogenicity
X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome, Thrombocytopenia 1
Health Risk
RS1440423616
Conflicting classifications of pathogenicity
X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome
Health Risk
RS145040665
Conflicting classifications of pathogenicity
Thrombocytopenia 1, Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
Health Risk
RS146220228
Conflicting classifications of pathogenicity
X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome
Health Risk
RS149932808
Conflicting classifications of pathogenicity
Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia, Thrombocytopenia 1
Health Risk
RS1569494034
Conflicting classifications of pathogenicity
Thrombocytopenia 1, Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
Health Risk
RS193922412
Conflicting classifications of pathogenicity
Wiskott-Aldrich syndrome, Thrombocytopenia 1, X-linked severe congenital neutropenia
Health Risk
RS200261212
Conflicting classifications of pathogenicity
Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia, Thrombocytopenia 1
Health Risk
RS201657175
Conflicting classifications of pathogenicity
X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome
Health Risk
All Variants (183)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1602178165 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia, Thrombocytopenia 1 |
| RS1602178184 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS1602178267 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, X-linked severe congenital neutropenia |
| RS1602178800 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia, Thrombocytopenia 1 |
| RS1602178952 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia, Thrombocytopenia 1 |
| RS1602179000 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia, Thrombocytopenia 1 |
| RS1602179794 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome |
| RS1602179810 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome |
| RS1602180058 | Health Risk | Pathogenic | Thrombocytopenia 1, Thrombocytopenia 1 |
| RS193922415 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, Thrombocytopenia 1, X-linked severe congenital neutropenia |
| RS2062410421 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2062410722 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2062412365 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2062412730 | Health Risk | Pathogenic | Thrombocytopenia 1, Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia |
| RS2062412810 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia, Thrombocytopenia 1 |
| RS2062416187 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2062416272 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia, Thrombocytopenia 1 |
| RS2062416328 | Health Risk | Pathogenic | — |
| RS2062417558 | Health Risk | Pathogenic | Thrombocytopenia 1, Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia |
| RS2062422078 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2062429013 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2062432605 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome |
| RS2062432653 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome |
| RS2147262809 | Health Risk | Pathogenic | Thrombocytopenia 1, X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome |
| RS2147262829 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome |
| RS2147262851 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, X-linked severe congenital neutropenia |
| RS2147262855 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2147263661 | Health Risk | Pathogenic | — |
| RS2147263906 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2147264299 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2147264930 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2147264989 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome |
| RS2147265693 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2147265717 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2147265894 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, Thrombocytopenia, Wiskott-Aldrich syndrome |
| RS2147265917 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2147266326 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome |
| RS2147266379 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2147266474 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia, Thrombocytopenia 1 |
| RS2147267350 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2519277338 | Health Risk | Pathogenic | Thrombocytopenia 1, Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia |
| RS2519277606 | Health Risk | Pathogenic | Thrombocytopenia 1, Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia |
| RS2519280109 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2519280132 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2519280195 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2519280651 | Health Risk | Pathogenic | Thrombocytopenia 1, X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome |
| RS2519280825 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2519280832 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2519280880 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |
| RS2519281015 | Health Risk | Pathogenic | X-linked severe congenital neutropenia, Thrombocytopenia 1, Wiskott-Aldrich syndrome |