Gastrointestinal epithelial barrier disorders
Gene: WASEnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 11 panels
4 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Expert review green and evidence of gastrointestinal epithelial barrier phenotype presentation in patient with Wiskott-Aldrich syndrome. Present in several sources.Created: 26 Jul 2018, 11:10 a.m.
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.
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Numerous variants reported in Wiskott-Aldrich syndrome 301000Created: 5 Sep 2016, 9:25 a.m.
Comment on phenotypes: Variants also reported in Neutropenia, severe congenital, X-linked 300299 XLR 3, Thrombocytopenia, X-linked 313900 XLR, Thrombocytopenia, X-linked, intermittent 313900Created: 5 Sep 2016, 9:24 a.m.
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 Review Green
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Early Onset Inflammatory Bowel Disease
- Inflammatory Bowel Disease (Very Early Onset)
- Wiskott-Aldrich syndrome 301000
- Tags
- OMIM
- 300392
- Clinvar variants
- Variants in WAS
- Penetrance
- None
- 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
- Cytopenias and congenital anaemias
- Bleeding and platelet disorders
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
History Filter Activity
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: was has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: was has been classified as Amber List (Moderate Evidence).
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Set mode of inheritance, Set penetrance
Olivia Niblock (Genomics England Curator)Model of inheritance for gene WAS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene WAS were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Wiskott-Aldrich syndrome 301000
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)UKGTN was added to WAS. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene WAS were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)
Added New Source
Olivia Niblock (Genomics England Curator)WAS was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
Created
Olivia Niblock (Genomics England Curator)WAS was created by Olivia Niblock