Gastrointestinal epithelial barrier disordersGene: WAS
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.
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 10:03 a.m.
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 301000
Created: 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 313900
Created: 5 Sep 2016, 9:24 a.m.
Gene: was has been classified as Green List (High Evidence).
Gene: was has been classified as Amber List (Moderate Evidence).
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
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
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)
WAS was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
WAS was created by Olivia Niblock