Early onset pancytopenia and red cell disorders
Gene: WASEnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 11 panels
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Wiskott-Aldrich syndrome, 301000Thrombocytopenia, X-linked, 313900Neutropenia, severe congenital, X-linked, 300299Thrombocytopenia, X-linked, intermittent, 313900
- Wiskot Aldrich syndrome
- Wiskott-Aldrich syndrome, 301000
- Thrombocytopenia, X-linked, 313900
- Neutropenia, severe congenital, X-linked, 300299
- Thrombocytopenia, X-linked, intermittent, 313900
- Neutropenia, Severe Congenital, X-Linked
- Thrombocytopenia 1
- Wiskott-Aldrich Syndrome
- OMIM
- 300392
- Clinvar variants
- Variants in WAS
- Penetrance
- Complete
- 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
Added New Source
Ellen McDonagh (Genomics England Curator)WAS was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene WAS was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)WAS was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)WAS was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)WAS was added to Early onset pancytopenia and red cell disorderspanel. Source: Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)WAS was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)WAS was added to Early onset pancytopenia and red cell disorderspanel. Sources: Radboud University Medical Center, Nijmegen