Combined Immunodeficiency
Gene: WIPF1

WIPF1 (WAS/WASL interacting protein family member 1)
EnsemblGeneIds (GRCh38): ENSG00000115935
EnsemblGeneIds (GRCh37): ENSG00000115935
OMIM: 602357, Gene2Phenotype
WIPF1 is in 9 panels

1 review

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, 5:28 a.m. | Last Modified: 17 Aug 2021, 5:28 a.m.

Panel Version: 0.328

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

Created: 17 Aug 2021, 5:28 a.m.
Last Modified: 17 Aug 2021, 5:28 a.m.
Panel version: 0.328

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