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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
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- BRIDGE consortium (NIHRBR-RD)
Phenotypes
- RBC membrane abnormality
- Elliptocytosis
- Spherocytosis, type 5, 612690
- Hereditary spherocytosis type 5
- Minkowski-Chauffard disease
- Spherocytosis, Recessive
- EPB42-related hereditary spherocytosis
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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
- Spherocytosis, type 5, 612690
- EPB42-related hereditary spherocytosis
- 612690 Spherocytosis, type 5
- Spherocytosis, Recessive
- Elliptocytosis
- Minkowski-Chauffard disease
- RBC membrane abnormality
- Hereditary spherocytosis type 5
- 612690 Hereditary spherocytosis type 5
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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
- Spherocytosis, type 5, 612690
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