Gastrointestinal epithelial barrier disorders

Gene: WAS

Green List (high evidence)

WAS (Wiskott-Aldrich syndrome)
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 12 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/412
Created: 14 May 2018, 10:03 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
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Wiskott-Aldrich syndrome 301000
Tags
gene-therapy-trial
OMIM
300392
Clinvar variants
Variants in WAS
Penetrance
None
Panels with this gene

History Filter Activity

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: was has been classified as Green List (High Evidence).

26 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: was has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 2

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

17 Apr 2018, Gel status: 2

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

17 Apr 2018, Gel status: 2

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)

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

WAS was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

WAS was created by Olivia Niblock