Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.16
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Curated sources
Phenotypes
- Class: familial predisp to leukaemia (typ AD)
- Quantitative and qualitative platelet disorders with propensity to myeloid malignancy, Familial platelet disorder with propensity to myeloid malignancy
- AML, MDS
- Thrombocytopenia
- No other known cancer risks
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Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.177
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Familial platelet disorder with predisposition to acute myelogenous leukemia
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Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Leukemia, acute myeloid, OMIM:601626
- Platelet disorder, familial, with associated myeloid malignancy, OMIM:601399
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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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- UKGTN
- Expert list
Phenotypes
- Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
- Familial MDS (Myelodysplastic syndromes)
- Platelet Disorder, Familial, With Associated Myeloid Malignancy
Tags
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Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Curated sources
Phenotypes
- Class: familial predisp to leukaemia (typ AD)
- Quantitative and qualitative platelet disorders with propensity to myeloid malignancy, Familial platelet disorder with propensity to myeloid malignancy
- AML, MDS
- Thrombocytopenia
- No other known cancer risks
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Version 3.9
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 601399 Platelet disorder, familial, with associated myeloid malignancy
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Version 3.32
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Expert review Amber
- North West GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
- NHS GMS
- London South GLH
Phenotypes
- Platelet disorder, familial, with associated myeloid malignancy, 601399
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Version 1.184
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Leukemia, acute myeloid, 601626
- Platelet disorder, familial, with associated myeloid malignancy, 601399
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