Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: WAS

Green List (high evidence)

WAS (Wiskott-Aldrich syndrome)
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 12 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/412
Created: 14 May 2018, 10:01 a.m.

Neil shah (GOSH)

Green List (high evidence)

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 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.

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
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Wiskott-Aldrich syndrome 301000
Tags
gene-therapy-trial
OMIM
300392
Clinvar variants
Variants in WAS
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 3

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

5 Sep 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for WAS were set to Wiskott-Aldrich syndrome 301000

5 Sep 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

WAS was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

5 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome 301000

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

WAS was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

WAS was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list