WIPF1:Ensemblv115

WAS/WASL interacting protein family member 1
OMIM: 602357, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green WIPF1 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Wiskott-Aldrich syndrome 2, MIM# 614493

Green WIPF1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Wiskott-Aldrich syndrome 2, MIM# 614493

Green WIPF1 in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
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

Green WIPF1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
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

Green WIPF1 in Hyper-IgE syndrome


Level 2: Immunological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
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

Amber WIPF1 in Phagocyte Defects


Level 2: Immunological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Amber
Phenotypes
  • Wiskott-Aldrich syndrome 2, MIM# 614493

Green WIPF1 in IBMDx study


Version 1.0

1 review Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
Phenotypes
  • Wiskott-Aldrich syndrome 2, MIM# 614493

Green WIPF1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Wiskott-Aldrich syndrome 2 MIM#614493
Tags
  • treatable
  • immunological
  • haematological

Green WIPF1 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Wiskott-Aldrich syndrome 2, MIM# 614493