IBMDx study
Gene: WAS
WAS (Wiskott-Aldrich syndrome)
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Thrombocytopaenia is a key feature of Wiskott-Aldrich syndrome and isolated thrombocytopaenia also described with WAS variants.
Sources: Expert listCreated: 17 Aug 2020, 1:06 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopenia, X-linked, MIM# 313900
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Thrombocytopenia, X-linked, MIM# 313900
- Wiskott-Aldrich syndrome, MIM# 301000
- OMIM
- 300392
- Clinvar variants
- Variants in WAS
- Penetrance
- None
- Panels with this gene
-
- Predominantly Antibody Deficiency
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Prepair 1000+
- Inflammatory bowel disease
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Vasculitis
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Additional findings_Paediatric
- Phagocyte Defects
- Mendeliome
- IBMDx study
- Cataract
- Prepair 500+
History Filter Activity
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WAS was added gene: WAS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: WAS was set to Unknown Phenotypes for gene: WAS were set to Thrombocytopenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000