WAS

Wiskott-Aldrich syndrome
OMIM: 300392, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green WAS in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert list Phenotypes Wiskott-Aldrich syndrome 301000 Tags gene-therapy-trial
Green WAS in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) X-linked neutropenia Wiskott Adrich Syndrome lymphoma MDS, AML, Lymphoma Tags gene-therapy-trial
Green WAS in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green UKGTN Emory Genetics Laboratory Phenotypes Early Onset Inflammatory Bowel Disease Inflammatory Bowel Disease (Very Early Onset) Wiskott-Aldrich syndrome 301000 Tags gene-therapy-trial
Green WAS in COVID-19 research Level 2: Viral research Version 1.146	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources IUIS Classification February 2018 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Congenital neutropaenia v1.22 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Combined B and T cell defect v1.12 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Congenital neutropaenia v1.22 Combined B and T cell defect v1.12 Phenotypes Wiskott-Aldrich syndrome (WAS) Combined immunodeficiencies with associated or syndromic features Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies Congenital neutropenia X-linked thrombocytopenia Congenital defects of phagocyte number or function X-linked thrombocytopenia with mutations in WASP Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis Neutropenia, severe congenital, X-linked, 300299 XL thrombocytopenia is a mild form of WAS, and XL neutropenia is caused by missense mutations in the GTPase binding domain of WASp Wiskott-Aldrich syndrome
Green WAS in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.182	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Wiskott-Aldrich syndrome Tags gene-therapy-trial
Green WAS in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Congenital neutropaenia v1.22 Combined B and T cell defect v1.12 Phenotypes Wiskott-Aldrich syndrome Neutropenia, severe congenital, X-linked, 300299 X-linked thrombocytopenia Wiskott-Aldrich syndrome (WAS) X-linked thrombocytopenia with mutations in WASP Congenital neutropenia Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis XL thrombocytopenia is a mild form of WAS, and XL neutropenia is caused by missense mutations in the GTPase binding domain of WASp Combined immunodeficiencies with associated or syndromic features Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies Congenital defects of phagocyte number or function Tags gene-therapy-trial
Green WAS in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Neutropenia, severe congenital, X-linked 300299 Thrombocytopenia, X-linked 313900 Thrombocytopenia, X-linked, intermittent 313900 Wiskott-Aldrich syndrome 301000 Tags gene-therapy-trial
Green WAS in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) X-linked neutropenia Wiskott Adrich Syndrome lymphoma MDS, AML, Lymphoma Tags gene-therapy-trial
Green WAS in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 313900 Thrombocytopenia, X-linked (intermittent) 300299 Neutropenia, severe congenital, X-linked 313900 Thrombocytopenia, X-linked intermittent 301000 Wiskott-Aldrich syndrome
Green WAS in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert review Green North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 313900 Thrombocytopenia, X-linked Neutropenia, severe congenital, X-linked, 300299 Thrombocytopenia, X-linked, intermittent 313900 313900 Thrombocytopenia Wiskott-Aldrich syndrome, 301000 Thrombocytopenia, X-linked 313900 Thrombocytopenia, X-linked, intermittent, 313900
Green WAS in Wiskott-Aldrich syndrome Level 2: Immunology Version 1.4 Latest signed off version: v1.0 (14 Sep 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Wiskott-Aldrich syndrome, OMIM:301000 Wiskott-Aldrich syndrome, MONDO:0010518