Haematological malignancies for rare disease
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 10:02 a.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
-
- Curated sources
- Expert Review Green
- Phenotypes
-
- Class: BM failure syndrome (typ AR)
- X-linked neutropenia
- Wiskott Adrich Syndrome
- lymphoma
- MDS, AML, Lymphoma
- Tags
- OMIM
- 300392
- Clinvar variants
- Variants in WAS
- Penetrance
- None
- Publications
-
- 28297620
- Cancer Gene Census
- Panels with this gene
-
- Inherited bleeding disorders
- Gastrointestinal epithelial barrier disorders
- Wiskott-Aldrich syndrome
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Bleeding and platelet disorders
- COVID-19 research
History Filter Activity
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)WAS was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)WAS was created by Ellen McDonagh