Bleeding and Platelet Disorders
Gene: WIPF1EnsemblGeneIds (GRCh38): ENSG00000115935
EnsemblGeneIds (GRCh37): ENSG00000115935
OMIM: 602357, Gene2Phenotype
WIPF1 is in 9 panels
2 reviews
Danielle Ariti (University of Melbourne)
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two unrelated families reported, one with 4 affected individuals. Extensive functional data.
Sources: Expert listCreated: 15 Sep 2020, 6:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wiskott-Aldrich syndrome 2, MIM# 614493
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Wiskott-Aldrich syndrome 2, MIM# 614493
- OMIM
- 602357
- Clinvar variants
- Variants in WIPF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wipf1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wipf1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WIPF1 was added gene: WIPF1 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WIPF1 were set to 27742395; 11869681; 22231303; 14757742; 9405671 Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493 Review for gene: WIPF1 was set to GREEN