Cytopenias and congenital anaemias
Gene: WASEnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 11 panels
3 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, 10:03 a.m.
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidence for causationCreated: 28 Feb 2017, 2:14 p.m.
X-linked recessive inheritance for all described phenotypes. Severe congenital neutropaenia reported in two families with proposed activating mutations following on from functional assessment. Therefore genotype-phenotype correlations may become clearer as the mutational information about the gene builds.Created: 22 Feb 2017, 11:01 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Neutropenia, severe congenital, X-linked 300299; Thrombocytopenia, X-linked 313900; Thrombocytopenia, X-linked, intermittent 313900; Wiskott-Aldrich syndrome 301000
Publications
- PMID 16804117
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Severe congenital neutropenia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- UKGTN
- Phenotypes
-
- Neutropenia, severe congenital, X-linked 300299
- Thrombocytopenia, X-linked 313900
- Thrombocytopenia, X-linked, intermittent 313900
- Wiskott-Aldrich syndrome 301000
- Tags
- OMIM
- 300392
- Clinvar variants
- Variants in WAS
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for WAS were set to Neutropenia, severe congenital, X-linked 300299; Thrombocytopenia, X-linked 313900; Thrombocytopenia, X-linked, intermittent 313900; Wiskott-Aldrich syndrome 301000
Set publications
Helen Brittain (Genomics England Curator)Publications for WAS were set to 16804117
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for WAS was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)WAS was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list
Created
Louise Daugherty (Genomics England Curator)WAS was created by LouiseD