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 Amber
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
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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 Red
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
- 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
- Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis
- Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
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Version 3.20
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 Amber
- NHS GMS
Phenotypes
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714
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Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714
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Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert
Phenotypes
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
- Mitochondrial Diseases
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