This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
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
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert list
- UKGTN
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes - Neutropenia
- Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
- Wiskot Aldrich syndrome
- OMIM
- 300392
- Clinvar variants
- Variants in WAS
- Penetrance
- Complete
- Panels with this gene
-
- Gastrointestinal epithelial barrier disorders
- Wiskott-Aldrich syndrome
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Bleeding and platelet disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
History Filter Activity
19 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)WAS was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)WAS was created by ellenmcdonagh
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)WAS was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN