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
- Paris-Trousseau thrombocytopenia and Jacobson syndrome (BIALLELIC, autosomal or pseudoautosomal)
- Bleeding disorder, platelet-type, 21
- 617443
- BDPLT21
- BDPLT21, Storage Pool Disorder and Bleeding (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
- BDPLT21, Paris Trousseau like (BIALLELIC, autosomal or pseudoautosomal)
- Bleeding disorder, platelet-type, 21
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Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
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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
- 617443 BLEEDING DISORDER, PLATELET-TYPE, 21
- BDPLT21
- 617443.BLEEDING DISORDER, PLATELET-TYPE, 21
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Version 3.34
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert review Amber
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
Phenotypes
- Bleeding disorder, platelet-type, 21, 617443
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Version 1.184
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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, 21, 617443
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