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Level 2: Viral research
Version 1.141
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- IUIS Classification December 2019
- IUIS Classification February 2018
- IUIS Classification December 2019
- IUIS Classification February 2018
Phenotypes
- Recurrent infections, neutropenia, thrombocytopenia
- Recurrent infections, thrombocytopenia
- Immunodeficiencies affecting cellular and humoral immunity
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Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Other
- IUIS Classification December 2019
- IUIS Classification February 2018
Phenotypes
- Immunodeficiency 46, OMIM:616740
Tags
- founder-effect
- Q4_23_promote_green
- Q4_23_NHS_review
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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 Red
Phenotypes
- Combined immunodeficiency
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