Version 5.4
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Other
Phenotypes
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
|
Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
- Hypocellular bone marrow
- congenital thrombocytopenia
- B-cell lymphopenia
- hypogammaglobulinemia
- radioulnar synostosis
- digit abnormalities
- clubfoot
- cardiac defects
- facial dysmorphism
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
|
Version 3.34
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert review Green
- Wessex and West Midlands GLH
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- NHS GMS
- London South GLH
Phenotypes
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
|
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 2, 616738
|