Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.43
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Wiskott-Aldrich syndrome 301000
Tags
|
Level 3: Clinical trials
Level 2: Actionable information
Version 0.9
|
review
|
Not set
|
Sources
- Expert Review Green
- ClinicalTrials.gov
Phenotypes
|
Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.17
|
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
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
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
|
Level 2: Viral research
Version 1.142
|
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
|
Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
Tags
|
Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
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
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
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
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
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
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
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
|
Version 3.33
Latest signed off version: v3.0
(22 Mar 2023)
|
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
|
Version 1.184
|
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
|
Version 1.1
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
|