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
- Other
Phenotypes
- Bernard-Soulier syndrome, type A1 (recessive)
- 231200
- Platelet-type von Willebrand disease
- Bernard-Soulier syndrome
- Bernard-Soulier syndrome (BIALLELIC, autosomal or pseudoautosomal)
- Platelet-type von Willebrand disease (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}
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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
- BSS
- 231200 BERNARD-SOULIER SYNDROME
- 177820 von Willebrand disease, platelet-type
- 231200BERNARD-SOULIER SYNDROME
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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 Amber
- Expert review Amber
- North West GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
- NHS GMS
- London South GLH
Phenotypes
- Bernard-Soulier syndrome, type A1, 231200
- Mild macrothrombocytopenia
- Platelet type VWD, mild thrombocytopenia
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
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review
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Not set
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Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Bernard-Soulier syndrome, type A1 (recessive), 231200
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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
- Bernard-Soulier syndrome, type A2 (dominant), 153670
- Bernard-Soulier syndrome, type A1 (recessive), 231200
- von Willebrand disease, platelet-type, 177820
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