Predominantly Antibody Deficiency
Gene: WASEnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopaenia, X-linked, MIM# 313900; Neutropenia, severe congenital, X-linked , MIM#300299
Abhijit Kulkarni (Monash Genetics)
Mutations in the WAS gene have been found in patients with Wiskott-Aldrich syndrome (#301000), X-linked thrombocytopenia (#313900), and X-linked severe congenital neutropenia (SCNX; #300299).
Missense mutations that cause WAS map primarily to the enabled (609061)/VASP (601703) homology-1 (EVH1) domain of WASP.
PMID: 34307257: Reported Wiskott-Aldrich Syndrome caused by extremely skewed X-Chromosome inactivation in a Chinese Girl.Created: 21 Mar 2022, 9:45 p.m. | Last Modified: 21 Mar 2022, 9:45 p.m.
Panel Version: 0.11705
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Congenital Neutropenia; Throbocytopenia; Immunodefeciency; Eczema
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Expert Review Green
- Victorian Clinical Genetics Services
- 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
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WAS was added gene: WAS was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: WAS was set to Unknown