Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
- Other
Phenotypes
- Diamond-Blackfan anemia 7, 612562
- thumb abnormalities
- hypoplastic thumb
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Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.17
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review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Curated sources
- Expert Review Green
Phenotypes
- Class: BM failure syndrome (typ AR)
- Diamond Blackfan Anemia
- MDS, AML
- Osteosarcoma, soft tissue sarcomas
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Version 4.21
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 Green
- Victorian Clinical Genetics Services
Phenotypes
- Diamond-Blackfan anemia 7, 612562
- hypoplastic thumb
- Radial Ray abnormality
- thumb abnormalities
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Inherited Bone Marrow Failure Syndromes
- Diamond Blackfan anemia
- Diamond-Blackfan Anemia
- Diamond-Blackfan anemia 7, 612562
- Diamond_Blackfan Anemia 7
- DIAMOND-BLACKFAN ANEMIA 7
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Curated sources
Phenotypes
- Class: BM failure syndrome (typ AR)
- Diamond Blackfan Anemia
- MDS, AML
- Osteosarcoma, soft tissue sarcomas
|
Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- Diamond_Blackfan Anemia 7
- Inherited Bone Marrow Failure Syndromes
- 612562 Diamond_Blackfan Anemia 7
- Diamond-Blackfan Anemia 7
- Diamond-Blackfan Anemia
- 612562 Diamond-Blackfan anemia 7
- Diamond-Blackfan anemia 7, 612562
- DIAMOND-BLACKFAN ANEMIA 7
- Diamond Blackfan anemia
|
Version 3.33
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- London South GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Diamond_Blackfan Anemia 7
- Diamond-Blackfan Anemia
- DIAMOND-BLACKFAN ANEMIA 7
- Diamond-Blackfan anemia 7, 612562
- Inherited Bone Marrow Failure Syndromes
- Diamond Blackfan anemia
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE Additional Gene List
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Diamond-Blackfan anemia 7 612562
- Diamond-Blackfan anemia with cleft palate and abnormal thumbs
|
Version 3.88
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 Green
Phenotypes
- Diamond-Blackfan anemia with cleft palate and abnormal thumbs
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Victorian Clinical Genetics Services
Phenotypes
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Diamond-Blackfan anemia 7, 612562
|