Predominantly Antibody Deficiency

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 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 individuals from 2 unrelated families reported with WIPF1 variants resulting in WAS2 phenotype; 2 mouse models

2 homozygous nonsense variants have been identified that result in premature stop codon and truncated protein.
(c.709 C>T) (p.Q237X) AND (c.1301 C>G) (p.S434X)

Individuals have presented in infancy with recurrent chest infections, chronic diarrhoea, gastrointestinal bleeding and increased IgE levels.
Created: 17 Aug 2021, 8:21 a.m. | Last Modified: 17 Aug 2021, 8:21 a.m.
Panel Version: 0.89

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wiskott-Aldrich syndrome 2 MIM# 614493; Reduced T cells; defective lymphocyte responses to anti-CD3; high IgE; Thrombocytopenia with or without small platelets; recurrent bacterial and viral Infections; eczema; bloody diarrhoea; gastrointestinal bleeding; WAS protein absent

Publications

Danielle Ariti (University of Melbourne)

Green List (high evidence)

5 individuals from 2 unrelated families reported with WIPF1 variants resulting in WAS2 phenotype; 2 mouse models

2 homozygous nonsense variants have been identified that result in premature stop codon and truncated protein.
(c.709 C>T) (p.Q237X) AND (c.1301 C>G) (p.S434X)

Individuals have presented in infancy with recurrent chest infections, chronic diarrhoea, gastrointestinal bleeding and increased IgE levels.
Created: 17 Aug 2021, 6:54 a.m. | Last Modified: 17 Aug 2021, 6:54 a.m.
Panel Version: 0.8836

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wiskott-Aldrich syndrome 2 MIM# 614493; Reduced T cells; defective lymphocyte responses to anti-CD3; high IgE; Thrombocytopenia with or without small platelets; recurrent bacterial and viral Infections; eczema; bloody diarrhoea; gastrointestinal bleeding; WAS protein absent

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Wiskott-Aldrich syndrome 2 MIM# 614493
  • Reduced T cells
  • defective lymphocyte responses to anti-CD3
  • high IgE
  • Thrombocytopenia with or without small platelets
  • recurrent bacterial and viral Infections
  • eczema
  • bloody diarrhoea
  • gastrointestinal bleeding
  • WAS protein absent
OMIM
602357
Clinvar variants
Variants in WIPF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WIPF1 were changed from to Wiskott-Aldrich syndrome 2 MIM# 614493; Reduced T cells; defective lymphocyte responses to anti-CD3; high IgE; Thrombocytopenia with or without small platelets; recurrent bacterial and viral Infections; eczema; bloody diarrhoea; gastrointestinal bleeding; WAS protein absent

17 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WIPF1 were set to

17 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WIPF1 was added gene: WIPF1 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: WIPF1 was set to Unknown