Version 4.23
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Literature
Phenotypes
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, OMIM:605432
- radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MONDO:0024558
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Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178
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review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Amegakaryocytic thrombocytopenia with radioulnar synostosis
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital amegkaryocytic thrombocytopenia
- Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Red
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432
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Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
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Version 3.34
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Expert review Red
- North West GLH
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London South GLH
Phenotypes
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432
|
Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
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Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432
|