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Wiskott-Aldrich syndrome
Gene: WAS
WAS (Wiskott-Aldrich syndrome)
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 11 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #301000) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 2:27 p.m. | Last Modified: 29 Dec 2025, 2:27 p.m.
Panel Version: 1.2
WAS has been added to the panel for R20 Wiskott-Aldrich syndrome with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 5:08 p.m. | Last Modified: 30 Jun 2023, 5:08 p.m.
Panel Version: 0.1
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Wiskott-Aldrich syndrome, OMIM:301000
- Wiskott-Aldrich syndrome, MONDO:0010518
- OMIM
- 300392
- Clinvar variants
- Variants in WAS
- Penetrance
- None
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Haematological malignancies cancer susceptibility
- Inherited bleeding disorders
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Wiskott-Aldrich syndrome
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: WAS were changed from Wiskott-Aldrich syndrome, OMIM:301000; Wilson disease, MONDO:0010200 to Wiskott-Aldrich syndrome, OMIM:301000; Wiskott-Aldrich syndrome, MONDO:0010518
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: WAS were changed from to Wiskott-Aldrich syndrome, OMIM:301000; Wilson disease, MONDO:0010200
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: WAS was added gene: WAS was added to Wiskott-Aldrich syndrome. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females