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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Glanzmann thrombasthenia (BIALLELIC, autosomal or pseudoautosomal)
- 273800
- Bleeding disorder, platelet-type, 16, autosomal dominant (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown )
- 187800
- BDPLT16
- Congenital macrothrombocytopenia
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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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Not set
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- BAK platelet antigen Glanzmann thrombasthenia, 273800
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Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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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
- 273800 Glanzmann thrombasthenia
- 187800 Bleeding disorder, platelet-type, 16, autosomal dominant
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Version 3.34
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
Phenotypes
- Glanzmann thrombasthenia, 273800
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Version 1.184
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Bleeding disorder, platelet-type, 16, autosomal dominant, 187800
- Thrombocytopenia, neonatal alloimmune, BAK antigen related
- Glanzmann thrombasthenia, 273800
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