Congenital neutropaenia

Gene: WAS

Green List (high evidence)

WAS (Wiskott-Aldrich syndrome)
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 13 panels

5 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.

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Three expert reviews recommend Green. Found in 1/4 sources. Three variants reported in the literature in three unrelated families with Neutropenia, severe congenital, X-linked, 300299
Created: 25 May 2016, 8:55 a.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Gain of function variants of WAS cause neutropenia (disruption of autoinhibition).
LOF variants cause the allelic disorders X-linked thrombocytopenia and Wiskott Aldrich Syndrome
Created: 19 Oct 2015, 10:23 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
severe congenital neutropenia; myelodysplasia

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

History Filter Activity

8 Jun 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for WAS were set to 11242115; 16804117

8 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for WAS were set to Neutropenia, severe congenital, X-linked, 300299

26 May 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

WAS was added to Congenital neutropaeniapanel. Sources: Literature

25 May 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

25 May 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900

25 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900

25 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299; Thrombocytopenia, X-linked, intermittent, 313900

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

WAS was added to Congenital neutropaeniapanel. Source: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

WAS was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen