Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
- Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
- Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
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review
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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
- Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
- Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
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Version 2.6
Latest signed off version: v2.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Wessex and West Midlands GLH
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
- Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
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Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
- Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
- Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
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