Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: WASAdded 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, 10:01 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 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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Phenotypes for WAS were set to Wiskott-Aldrich syndrome 301000
WAS was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome 301000
WAS was created by ellenmcdonagh
WAS was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list