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Primary immunodeficiency

Gene: WIPF1

Green List (high evidence)

WIPF1 (WAS/WASL interacting protein family member 1)
EnsemblGeneIds (GRCh38): ENSG00000115935
EnsemblGeneIds (GRCh37): ENSG00000115935
OMIM: 602357, Gene2Phenotype
WIPF1 is in 5 panels

5 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

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wiskott-Aldrich syndrome like; combined immunodeficiency; thrombocytopenia

Publications

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added associated phenotype from OMIM with MIM number
Created: 20 Jun 2018, 11:21 p.m.
Comment on publications: Adding relevant publications.
Created: 20 Jun 2018, 11:19 p.m.
Comment on list classification: Keeping this gene Amber as there is not yet sufficient evidence to rate it green.
Created: 20 Jun 2018, 11:18 p.m.
In OMIM WIPF1 is provisionally associated with Wiskott-Aldrich syndrome 2. OMIM reports only one case of a patient with Wiskott-Aldrich syndrome 2 and a variant identified in WIPF1: Lanzi et al. (2012)(PMID: 22231303) identified a homozygous ser434-to-ter (S434X; 602357.0001) mutation in the WIPF1 gene of a Moroccan infant. The patient's parents, who were consanguineous, were heterozygous for the mutation. WIPF1 encodes the Wiskott-Aldrich Syndrome Interacting Protein (WIP) and interacts with WASP ( Ramesh et al. (1997)(PMID: 9405671). Variants in WASP are reported to cause Wiskott-Aldrich Syndrome (OMIM: 301000). Wip -/- mice show defects in aspects of their immune responses (Anton et al. (2002)(PMID: 11869681), Kettner et al. (2004)(PMID:14757742.
Created: 20 Jun 2018, 11:17 p.m.

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
Two unrelated cases reported in the literature. The first report was an 11-day-old Moroccan girl with Wiskott-Aldrich syndrome-2, this second described was from a large consanguineous family with 4 affecteds, a further 8 cases did not have the chance for full evaluation due to early infantile death, but it as assumed they had the same disease-based clinical presentation of recurrent infections, bloody diarrhea, and thrombocytopenia.
Created: 6 Jul 2018, 9:20 a.m.
Comment on list classification: Changed Amber to Green from external review and further publications to support gene-disease association.
Created: 6 Jul 2018, 9:07 a.m.
from Al-Mousa H et al. (2017) PMID: 27742395 identified a second family with WIP deficiency. Two variants have now been described in the literature, homozygous ser434-to-ter (S434X; 602357.0001) and a homozygous nonsense mutation (c.709 C>T) (p.Q237X) in the WIPF1 gene. Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disease characterized by immune deficiency, thrombocytopenia, and eczema. A novel primary immunodeficiency had previously been reported in a single patient with a nonsense mutation in WIPF1 (PMID:22231303 ), the gene that encodes WIP, producing a protein that lacks a WASP-binding site with defective WASP expression. This single patient was reported to have been successfully transplanted using unrelated umbilical cord stem cell. Details of stem cell transplantation and immune reconstitution were not provided PMID: 22231303. In Al-Mousa H et al. (2017) PMID: 27742395 reported 4 patients with WIP deficiency who underwent stem cell transplantation along with their detailed clinical features, stem cell transplantation, and immune reconstitution. All 4 patients presented with a history of recurrent infections and thrombocytopenia. They belonged to a large sibship of 12 in a highly consanguineous family originating from the Southern province of Saudi Arabia.
Created: 6 Jul 2018, 9:06 a.m.
Comment on publications: Added publication suggested from external expert review to support upgrading of the gene to Green. Al-Mousa H et al. (2017) PMID:27742395
Created: 6 Jul 2018, 8:51 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): WIPF1 .PanelApp HGNC gene symbol check: WIPF1 . IUIS Disease: WIP deficiency . IUIS Inheritance: AR , .B cells: Normal or low, .IUIS Other affected cells: N/A. IUIS Associated features: Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Immunodeficiency with Congenital Thrombocytopenia
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 10:37 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: WIPF1, PanelApp HGNC gene symbol check: WIPF1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / Wiskott-Aldrich syndrome (WAS) / WIP deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: WIPF1, GRID_Gene_Symbol: WIPF1, GRID_Transcript_ENS_Community submitted: ENST00000392547, GRID_Transcript_RefSeq: NM_001077269.1, GRID_Transcript_ENS_used_on_Production: ENST00000392547
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Wiskott-Aldrich syndrome like, WIP deficiency
  • WIP deficiency
  • ?Wiskott-Aldrich syndrome 2 614493
  • Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent
  • Combined immunodeficiencies with associated or syndromic features
OMIM
602357
Clinvar variants
Variants in WIPF1
Penetrance
None
Publications
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 WIPF1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to WIPF1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to WIPF1.

12 Jul 2018, Gel status: 3

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.

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: wipf1 has been classified as Green List (High Evidence).

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: wipf1 has been classified as Green List (High Evidence).

6 Jul 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: WIPF1 were set to 22231303; 9405671; 11869681; 14757742; 27742395

6 Jul 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: WIPF1 were set to 22231303; 9405671; 11869681; 14757742

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene WIPF1 were set to Wiskott-Aldrich syndrome like, WIP deficiency, WIP deficiency, ?Wiskott-Aldrich syndrome 2 614493, Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent, Combined immunodeficiencies with associated or syndromic features

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to WIPF1. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to WIPF1. Panel: Primary immunodeficiency disorders

20 Jun 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome like, WIP deficiency; WIP deficiency; ?Wiskott-Aldrich syndrome 2 614493

20 Jun 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: WIPF1 were set to 22231303; 9405671; 11869681; 14757742

20 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: wipf1 has been classified as Amber List (Moderate Evidence).

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to WIPF1. Panel: Primary immunodeficiency disorders Phenotypes for gene WIPF1 were set to Wiskott-Aldrich syndrome like, WIP deficiency, WIP deficiency

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene WIPF1 were set to Wiskott-Aldrich syndrome like, WIP deficiency

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

WIPF1 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

WIPF1 was created by Louise Daugherty