Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.18
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Expert Review Green
- Curated sources
Phenotypes
- Class: BM failure syndrome (typ AR)
- Diamond Blackfan Anemia
- MDS, AML
- Osteosarcoma, soft tissue sarcomas
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Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
Phenotypes
- Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835
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Level 2: Viral research
Version 1.142
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- London North GLH
- NHS GMS
- Congenital neutropaenia v1.22
- North West GLH
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- Congenital neutropaenia v1.22
Phenotypes
- neutropenia
- dyserythropoietic anaemia
- thrombocytopenia
- Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
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Version 1.24
Latest signed off version: v1.4
(15 Oct 2020)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367
- thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010308
Tags
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Version 5.2
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Amber
- Victorian Clinical Genetics Services
Phenotypes
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Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- X-linked thrombocytopenia with dyserythropoiesis
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Version 5.1
Latest signed off version: v5.0
(1 May 2024)
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- Congenital neutropaenia v1.22
Phenotypes
- Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
- thrombocytopenia
- dyserythropoietic anaemia
- neutropenia
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Myelodysplastic syndrome (MDS), Paediatric
- Diamond Blackfan Anaemia
- Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367
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Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- Congenital erythropoietic porphyria
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
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Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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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)
- Diamond Blackfan Anemia
- MDS, AML
- Osteosarcoma, soft tissue sarcomas
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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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
- 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- Diamond-Blackfan anaemia
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
- 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- Anemia, X-linked, with/without neutropenia and/or platelet abnormalities
- Diamond Blackfan Anaemia
- 300367 Diamond Blackfan Anaemia
- Myelodysplastic syndrome (MDS), Paediatric
- Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367
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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
- 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
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Version 3.34
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert review Green
- Expert Review Green
- London South GLH
- North West GLH
- Yorkshire and North East GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- 314050 Thrombocytopenia with beta-thalassemia, X-linked
- Diamond Blackfan Anaemia
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
- Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
- Myelodysplastic syndrome (MDS), Paediatric
- Anaemia
- thrombocytopenia
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Version 1.184
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
- Thrombocytopenia with beta-thalassemia, X-linked, 314050
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