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Primary immunodeficiency

Gene: WAS

Green List (high evidence)

WAS (Wiskott-Aldrich syndrome)
EnsemblGeneIds (GRCh38): ENSG00000015285
EnsemblGeneIds (GRCh37): ENSG00000015285
OMIM: 300392, Gene2Phenotype
WAS is in 12 panels

8 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): WAS .PanelApp HGNC gene symbol check: WAS . IUIS Disease: Wiskott-Aldrich syndrome . IUIS Inheritance: XL , .B cells: Normal numbers, .IUIS Other affected cells: N/A. IUIS Associated features: Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis. XL thrombocytopenia is a mild form of WAS, and XL neutropenia is caused by missense mutations in the GTPase binding domain of WASp. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Immunodeficiency with Congenital Thrombocytopenia. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): WAS .PanelApp HGNC gene symbol check: WAS . IUIS Disease: X-linked neutropenia/ myelodysplasia . IUIS Inheritance: XL , .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies . IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Congenital Neutropenias
Created: 2 Jul 2018, 11:02 a.m.
Comment on mode of pathogenicity: Gain of function variants cause X-linked neutropenia/ myelodysplasia WAS
Created: 13 Jun 2018, 2:58 p.m.
from Congenital neutropaenia panel
Sophie Hambleton (Newcastle University)
[email protected]
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
19 Oct 2015, 11:23 p.m.

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

Phenotypes
severe congenital neutropenia; myelodysplasia

Publications

11242115
16804117
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Created: 18 Apr 2018, 3:56 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: WASP (x-linked), PanelApp HGNC gene symbol check: WAS, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / Wiskott-Aldrich syndrome (WAS) / Wiskott-Aldrich syndrome (WAS); Other well defined PIDs / Wiskott-Aldrich syndrome (WAS) / X-linked thrombocytopenia with mutations in WASP; Phagocytic disorders / Congenital neutropenia / Congenital neutropenia
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: WAS, GRID_Gene_Symbol: WAS, GRID_Transcript_ENS_Community submitted: ENST00000376701, GRID_Transcript_RefSeq: NM_000377.2, GRID_Transcript_ENS_used_on_Production: ENST00000376701
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

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, 10:02 a.m.
Comment on list classification: Gene added by a reviewer, with a second green rating. Multiple cases of patients with Wiskott-Aldrich syndrome in OMIM.
Created: 3 Jun 2016, 3:19 p.m.

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.

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • Congenital neutropaenia v1.22
  • Combined B and T cell defect v1.12
Phenotypes
  • Wiskott-Aldrich syndrome
  • Neutropenia, severe congenital, X-linked, 300299
  • X-linked thrombocytopenia
  • Wiskott-Aldrich syndrome (WAS)
  • X-linked thrombocytopenia with mutations in WASP
  • Congenital neutropenia
  • Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis
  • XL thrombocytopenia is a mild form of WAS, and XL neutropenia is caused by missense mutations in the GTPase binding domain of WASp
  • Combined immunodeficiencies with associated or syndromic features
  • Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies
  • Congenital defects of phagocyte number or function
Tags
gene-therapy-trial
OMIM
300392
Clinvar variants
Variants in WAS
Penetrance
None
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
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to WAS.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to WAS.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to WAS.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome; Neutropenia, severe congenital, X-linked, 300299; X-linked thrombocytopenia; Wiskott-Aldrich syndrome (WAS); X-linked thrombocytopenia with mutations in WASP; Congenital neutropenia; Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis; XL thrombocytopenia is a mild form of WAS, and XL neutropenia is caused by missense mutations in the GTPase binding domain of WASp; Combined immunodeficiencies with associated or syndromic features; Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies; Congenital defects of phagocyte number or function

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to WAS. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to WAS. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

13 Jun 2018, Gel status: 4

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: WAS was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to WAS. Panel: Primary immunodeficiency disorders Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, Neutropenia, severe congenital, X-linked, 300299, X-linked thrombocytopenia, Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia with mutations in WASP, Congenital neutropenia

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, Neutropenia, severe congenital, X-linked, 300299, X-linked thrombocytopenia

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to WAS. Panel: Primary immunodeficiency disorders Phenotypes for gene WAS were set to Wiskott-Aldrich syndrome, Neutropenia, severe congenital, X-linked, 300299, X-linked thrombocytopenia

6 Apr 2018, Gel status: 4

Clear Sources

Louise Daugherty (Genomics England Curator)

WAS Source: GOSH PID 20171207 was removed from gene: WAS

6 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to WAS. Panel: Primary immunodeficiency disorders

5 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for WAS were set to Wiskott-Aldrich syndrome; Neutropenia, severe congenital, X-linked, 300299; X-linked thrombocytopenia

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID 20171207 was added to WAS. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for WAS were set to Neutropenia, severe congenital, X-linked, 300299; Wiskott Aldrich Syndrome; x-linked thrombocytopenia

29 Mar 2018, Gel status: 4

Added New Source, Set publications

Louise Daugherty (Genomics England Curator)

Congenital neutropaenia v1.22 was added to WAS. Panel: Primary immunodeficiency disorders Publications for gene WAS was set to ['11242115', '16804117']

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

WAS was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Combined B and T cell defect v1.12

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

WAS was created by Louise Daugherty