WAS

Wiskott-Aldrich syndrome
OMIM: 300392, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green WAS in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Wiskott-Aldrich syndrome 301000
Tags
  • gene-therapy-trial

Green WAS in Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.7

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Wiskott Aldrich syndrome

Green WAS in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

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 1.60

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 1.77

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 1.159

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


Version 2.419
Latest signed off version: v2.1 (24 Feb 2020)

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 1.84

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
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 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.15
Latest signed off version: v2.2 (18 Feb 2020)

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


Version 1.26
Latest signed off version: v1.2 (3 Mar 2020)

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


Version 1.37
Latest signed off version: v1.29 (15 Oct 2020)

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 Severe Paediatric Disorders


Version 1.76

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocytopenia, X-linked, intermittent, 313900
  • Neutropenia, severe congenital, X-linked, 300299
  • Wiskott-Aldrich syndrome, 301000
  • Thrombocytopenia, X-linked, 313900