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Cytopenias and congenital anaemias

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

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: changed rating from Red to Green
Created: 6 Jul 2018, 9:25 a.m.
upgraded rating due to PID panel update and additional supporting Green review from external expert
Created: 6 Jul 2018, 9:24 a.m.
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. 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, 9:22 a.m.
Comment on phenotypes: added OMIM code to denote molecular basis is still unknown. There is currently only one case reported for Wiskott-Aldrich syndrome 2 PMID:22231303. Wiskott-Aldrich syndrome 1 and 2 is characterized by thrombocytopenia, eczema, and recurrent infections.
Created: 21 Feb 2017, 3:33 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
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
OMIM
602357
Clinvar variants
Variants in WIPF1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: WIPF1 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

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

6 Jul 2018, Gel status: 1

Set Phenotypes

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

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

24 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

21 Feb 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for WIPF1 were set to 22231303

21 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for WIPF1 were set to ?Wiskott-Aldrich syndrome 2, 614493

21 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for WIPF1 were set to ?Wiskott-Aldrich syndrome 2, 614493

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

WIPF1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

WIPF1 was created by LouiseD