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Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Nonimmune hydrops fetalis
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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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BOTH monoallelic and 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,616649
- Anemia, neonatal hemolytic, fatal and near-fatal
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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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BOTH monoallelic and 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,616649
- Elliptocytosis
- Anemia, neonatal hemolytic, fatal and near-fatal
- RBC membrane abnormality
- 617948 Elliptocytosis-3
- 616649 Spherocytosis, type 2
- 616649 Anemia, neonatal hemolytic, fatal and near-fatal
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Version 1.184
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Spherocytosis, type 2, 616649
- Anemia, neonatal hemolytic, fatal or near-fatal, 617948
- Elliptocytosis-3, 617948
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