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
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Iron-Refractory Iron Deficiency Anemia
- Iron refractoryirondeficiencyanemia,206200
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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
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Iron-Refractory Iron Deficiency Anemia
- 206200 Iron refractoryirondeficiencyanemia
- Iron refractoryirondeficiencyanemia,206200
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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
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 206200 Iron-refractory iron deficiency anemia
- IRIDA
- 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA
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Version 3.155
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
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- IRON-REFRACTORY IRON DEFICIENCY ANEMIA
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- IRON-REFRACTORY IRON DEFICIENCY ANEMIA 206200
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.531
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Iron-refractory iron deficiency anemia, 206200
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Version 1.184
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Iron-refractory iron deficiency anemia, 206200
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