Transplant Co-Morbidity Superpanel
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
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Wiskott-Aldrich syndrome, MIM# 301000
- Thrombocytopenia, X-linked, MIM# 313900
- 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
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: WAS was added gene: WAS was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopenia, X-linked, MIM# 313900